Spastic Paraplegia, Hereditary: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)Paraplegia: Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.Paraparesis, Spastic: Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.Muscle Spasticity: A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Adaptor Protein Complex 4: An adaptor protein complex involved in transport of molecules between the TRANS-GOLGI NETWORK and the endosomal-lysosomal system.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.Paraparesis, Tropical Spastic: A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239)Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)Reflex, Babinski: A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.Agenesis of Corpus Callosum: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.Spasm: An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Spinal Cord Ischemia: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue.Pelizaeus-Merzbacher Disease: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Cerebral Palsy: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Human Characteristics: The fundamental dispositions and traits of humans. (Merriam-Webster's Collegiate Dictionary, 10th ed)Hereditary Sensory and Motor Neuropathy: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)Quadriplegia: Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.Optic Atrophy: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Syndrome: A characteristic symptom complex.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Leukocyte L1 Antigen Complex: A member of the S-100 protein family that is present at high levels in the blood and interstitial fluid in several infectious, inflammatory, and malignant disorders, including rheumatoid arthritis, inflammatory bowel disease, and cystic fibrosis. It is a complex of a light chain (CALGRANULIN A) and a heavy chain (CALGRANULIN B). L1 binds calcium through an EF-hand motif, and has been shown to possess antimicrobial activity.Spinocerebellar Degenerations: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Consanguinity: The magnitude of INBREEDING in humans.Spinal Cord Injuries: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).ATP-Dependent Proteases: Proteases that contain proteolytic core domains and ATPase-containing regulatory domains. They are usually comprised of large multi-subunit assemblies. The domains can occur within a single peptide chain or on distinct subunits.Myelin Proteolipid Protein: A myelin protein that is the major component of the organic solvent extractable lipoprotein complexes of whole brain. It has been the subject of much study because of its unusual physical properties. It remains soluble in chloroform even after essentially all of its bound lipids have been removed. (From Siegel et al., Basic Neurochemistry, 4th ed, p122)Corpus Callosum: Broad plate of dense myelinated fibers that reciprocally interconnect regions of the cortex in all lobes with corresponding regions of the opposite hemisphere. The corpus callosum is located deep in the longitudinal fissure.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Motor Neurons: Neurons which activate MUSCLE CELLS.Metalloendopeptidases: ENDOPEPTIDASES which use a metal such as ZINC in the catalytic mechanism.Tuberculosis, Spinal: Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.GTP Phosphohydrolases: Enzymes that hydrolyze GTP to GDP. EC 3.6.1.-.Paraparesis: Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.Aortic Aneurysm, Thoracic: An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Spinal Cord Compression: Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.Motor Neuron Disease: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)Optic Atrophies, Hereditary: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.Laminectomy: A surgical procedure that entails removing all (laminectomy) or part (laminotomy) of selected vertebral lamina to relieve pressure on the SPINAL CORD and/or SPINAL NERVE ROOTS. Vertebral lamina is the thin flattened posterior wall of vertebral arch that forms the vertebral foramen through which pass the spinal cord and nerve roots.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Equinus Deformity: Plantar declination of the foot.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

*  Hereditary Spastic Paraplegia Summary Report | CureHunter

Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have ... Hereditary Spastic Paraplegia: A group of inherited diseases that share similar phenotypes but are genetically diverse. ... Spastic Paraplegia, Hereditary; Autosomal Dominant Hereditary Spastic Paraplegia; Autosomal Dominant Spastic Paraplegia ... Spastic Paraplegias, Hereditary; Type V, HMSN; X linked Recessive Hereditary Spastic Paraplegia; X-Linked, Spastic Paraplegia, ...

*  SPG14 Gene - GeneCards | SPG14 Genetic Locus

Spastic Paraplegia 14 (Autosomal Recessive), including: function, proteins, disorders, pathways, orthologs, and expression. ... spastic paraplegia 14, autosomal recessive. *hereditary spastic paraplegia 14. spastic paraplegia 14. *spastic paraplegia 14, ... Diseases associated with SPG14 include Spastic Paraplegia 14, Autosomal Recessive and Spastic Paraplegia 14. ... A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, ...

*  120(4)

Hereditary spastic paraplegias (HSPs; SPG1-45) are inherited neurological disorders characterized by lower extremity spastic ... Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER ... Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER ...

*  Futsch Archives - Knowing Neurons

One such mystery was the genetic cause of Troyer syndrome - a hereditary spastic paraplegia caused by a mutation in the human ... in Drosophila increases in BMP signaling causes age-dependent neurodegeneration that resembles hereditary spastic paraplegia, ... diseases provide mechanistic insight into what signaling pathways induce degeneration in hereditary spastic paraplegias and ...

*  Hereditary spastic paraplegia

... (HSP) refers to a group of familial diseases that are characterized by progressive degeneration ... Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1:1151.. *Fink JK. Hereditary spastic paraplegia ... Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 ( ... Hereditary spastic paraplegia. Authors. Puneet Opal, MD, PhD. Puneet Opal, MD, PhD ...

*  hereditary spastic paraplegia 2 Disease Ontology Browser - DOID:0110773

Synonyms: spastic paraplegia type 2; SPG2; X-linked spastic paraplegia 2 ... hereditary spastic paraplegia 2 (DOID:0110773) Alliance: disease page Synonyms: spastic paraplegia type 2; SPG2; X-linked ... spastic paraplegia 2 Alt IDs: OMIM:312920, ICD10CM:G11.4, ORDO:99015 Definition: A hereditary spastic paraplegia that has_ ... Human Disease Modeled: hereditary spastic paraplegia 2. Associated Mouse Gene: Plp1 Allelic Composition. Genetic Background. ...

*  Hereditary spastic paraplegia is a frequently misdiagnosed neurological disorder - RightDiagnosis.com

Hereditary spastic paraplegia is a frequently misdiagnosed neurological disorder Medical information in relation to symptoms, ... About: Hereditary spastic paraplegia is a frequently misdiagnosed neurological disorder Date: 9 January 2005 Source: About ... Hereditary spastic paraplegia is a group of more than 20 inherited neurological disorders. The condition can start at any age ... Hereditary spastic paraplegia *Neurological disorder *Vitamin B12 deficiency *Mitochondrial disease *Amyotrophic lateral ...

*  Hereditary spastic paraplegia - Wikipedia

"Hereditary spastic paraplegia". nhs.uk. Retrieved 2018-01-28. Fink JK (2003). "The Hereditary Spastic Paraplegias". Archives of ... GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A Hereditary spastic paraplegia at Curlie (based on DMOZ) GeneReviews/NCBI ... UW entry on Hereditary Spastic Paraplegia Overview Warner, Tom (January-February 2007). "Hereditary Spastic Paraplegia" (PDF). ... HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, or Strumpell- ...

*  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. | Journal of Neurology, Neurosurgery &...

Two forms of dominant hereditary spastic paraplegia were identified: one with an age of onset mostly below 35 years (type I), ... In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal ... Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. ... Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. ...

*  Search of: 'spastic paraplegia type 3A' OR 'Spastic Paraplegia, Hereditary' OR 'Spastic Paraplegia' OR 'Hereditary Autosomal...

spastic paraplegia type 3A' OR 'Spastic Paraplegia, Hereditary' OR 'Spastic Paraplegia' OR 'Hereditary Autosomal Dominant ... spastic paraplegia type 3A' OR 'Spastic Paraplegia, Hereditary' OR 'Spastic Paraplegia' OR 'Hereditary Autosomal Dominant ... 16 Studies found for: 'spastic paraplegia type 3A' OR 'Spastic Paraplegia, Hereditary' OR 'Spastic Paraplegia' OR 'Hereditary ... Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia. *Hereditary Spastic Paraplegia ...

*  SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal...

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and ... SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal ... SPG11, spatacsin, Kjellin syndrome, hereditary spastic paraplegia, corpus callosum National Category Medical and Health ... Disease onset is during the first three decades of life with spastic paraplegia and mental impairment. Peripheral neuropathy ...

*  hereditary spastic paraplegia

Stories about: hereditary spastic paraplegia SPG47: When rare disease research gets a push from parents. Posted on April 12, ... More than 70 types of Hereditary Spastic Paraplegia (HSP) have been identified to date; almost all are neurodegenerative. At ... More On: Basil Darras, citizen science, Darius Ebrahimi-Fakhari, hereditary spastic paraplegia, SPG47 ... Spastic Paraplegia 47 doesn't roll off the tongue. The name is complicated and challenging, much like SPG47 itself. When I tell ...

*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Hereditary Spastic Paraplegia

Spastic Paraplegia Foundation Supports on the upper motor neuron disorders hereditary spastic paraplegia and primary lateral ... Aims to find a cure for hereditary spastic paraplegia, a degenerative, hereditary disease affecting mainly the lower limbs, ... "Health ... Hereditary Spastic Paraplegia" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ... Hereditary Spastic Paraplegia In depth look at this disease by John K. Fink, M.D., including genetic analysis, clinical ...

*  Mitochrondrial dysfunction in idiopathic Parkinson disease. Novel locus for autosomal dominant hereditary spastic paraplegia,...

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q ... Autosomal dominant hereditary spastic paraplegia (HSP) has been shown, through analysis of a Caucasian kindred, to have a novel ... Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Article Abstract:. ... Abstracts: An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35; ...

*  Study offers new clues about hereditary spastic ... ( HOUSTON -- (July 8 2011) -- New rese...)

... hereditary,spastic,paraplegia,biological,biology news articles,biology news today,latest biology news,current biology news, ... Study offers new clues about hereditary spastic paraplegia. ...HOUSTON -- (July 8 2011) -- New research from Rice University ... image.bio-medicine.org/img/Study-offers-new-clues-about-hereditary-spastic-paraplegia.gif' alt='Study offers new clues about ... from Rice University and Italy's Eugenio Medea Scientific Institute is yielding clues about hereditary spastic paraplegia (HSP ...

*  Wiley: International Neurology: A Clinical Approach - Robert P. Lisak, Daniel D. Truong, William Carroll, et al

Hereditary spastic paraplegia.. 55. Spinal muscular atrophies.. 56. Post-polio syndrome.. Degenerative muscle disorders. ...

*  Search of: HIV/AIDS AND neuroAIDS OR HIV/AIDS neuropathy OR polyneuropathy OR AIDS dementia complex OR AIDS neuropathy OR HIV...

Hereditary Spastic Paraplegias. *(and 2 more...). Observational. *National Institute of Neurological Disorders and Stroke ( ... Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). 415. All. 10 Years and older (Child, Adult, ... Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). *Charcot ...

*  Lawrence C. Murphy, MD | Swedish Medical Center Seattle and Issaquah

hereditary sensory neuropathy. *hereditary spastic paraplegia. *hiv dementia. *hiv neuropathy. *hydrocephalus. *hydromyelia ...

*  James D. Bowen, MD | Swedish Medical Center Seattle and Issaquah

hereditary sensory neuropathy. *hereditary spastic paraplegia. *hiv dementia. *hiv neuropathy. *hydrocephalus. *hydromyelia ...

*  Lina Fine, MD, MPhil | Swedish Medical Center Seattle and Issaquah

hereditary sensory neuropathy. *hereditary spastic paraplegia. *histrionic personality disorder. *hiv dementia. *hiv neuropathy ...

*  Sheila D. Smith, MD | Seattle,WA

hereditary sensory neuropathy. *hereditary spastic paraplegia. *hiv dementia. *hiv neuropathy. *hydrocephalus. *hydromyelia ...

*  C1849140[DISCUI] - GTR - NCBI

Hereditary Spastic Paraplegia Exome Panel. Genetic Services Laboratory University of Chicago. United States ... Autosomal Recessive Spastic Ataxia of the Charlevoix-Saguenay. Molecular Diagnostics Laboratory Hospital Sainte-Justine. Canada ... Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene ...

*  EPS15 Gene - GeneCards | EPS15 Protein | EPS15 Antibody

hereditary spastic paraplegia. - elite association - COSMIC cancer census association via MalaCards Search EPS15 in MalaCards ...

*  KY Gene - GeneCards | KY Protein | KY Antibody

neuropathy, hereditary sensory, with spastic paraplegia. *hereditary sensory and autonomic neuropathy with spastic paraplegia ... Diseases associated with KY include Myopathy, Myofibrillar, 7 and Neuropathy, Hereditary Sensory, With Spastic Paraplegia. GO ... spastic paraplegia 7, autosomal recessive. *hereditary spastic paraplegia. infantile-onset ascending hereditary spastic ...

*  Conditions and Diseases - Nervous System and Sense Organs- Health Information - Pines Road Family Medicine - Best Family...

Paraplegia. *Parkinson disease*Living with Parkinson disease. *Parkinson plus syndrome. *Pearson syndrome ... Hereditary motor and sensory neuropathies. *Herpes zoster oticus. *Hiccups. *HIE. *HIE-newborn ... Spastic dysphonia. *Spasticity. *Specific reading disability. *Spinal nerve roots, compression. *Spinal tumor ...

List of diseases (S): This is a list of diseases starting with the letter "S".List of people with paraplegia: This is a list of people who have or had paraplegia.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.OpsismodysplasiaIridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.AAA proteins: For other uses see AAA (disambiguation)Autosomal recessive cerebellar ataxia: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood.Status migrainosus: Status Migrainosus, also known as Status Migraine, Intractable Migraine and Pernicious Migraine is defined as a severe migraine headache without aura, lasting longer than 72 hours and is classified as a complication of a migraine. There are about 100 million people with headaches in the U.Agenesis: In medicine, agenesis (Entry "agenesis" in Merriam-Webster Online Dictionary.) refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.SpasmPelizaeus–Merzbacher diseaseMissense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Gross Motor Function Classification System: The Gross Motor Function Classification System or GMFCS is a 5 level clinical classification system that describes the gross motor function of people with cerebral palsy on the basis of self-initiated movement abilities. Particular emphasis in creating and maintaining the GMFCS scale rests on evaluating sitting, walking, and wheeled mobility.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Human Nature (America album): Human Nature is the fourteenth original studio album by American folk rock duo America, released by Oxygen Records in 1998 (see 1998 in music). It was their first new studio album since 1994's "Hourglass".Hereditary motor and sensory neuropathy: Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication. HMSN are characterized by non typical neural development, and degradation of neural tissue.Upper-limb surgery in tetraplegia: Upper-limb surgery in tetraplegia includes a number of surgical interventions that can help improve the quality of life of a patient with tetraplegia.Berk–Tabatznik syndrome: Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Genetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Exome: The exome is the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing. It consists of all DNA that is transcribed into mature RNA in cells of any type as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population.Neuromere: Neuromeres are morphologically or molecularly defined transient segments of the early developing brain. Rhombomeres are such segments that make up the rhombencephalon or hindbrain.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Rehabilitation in spinal cord injury: When treating a person with a spinal cord injury, repairing the damage created by injury is the ultimate goal. By using a variety of treatments, greater improvements are achieved, and, therefore, treatment should not be limited to one method.HslVUMyelin proteolipid protein: Myelin proteolipid protein (PLP or lipophilin) is the major myelin protein from the central nervous system (CNS). It plays an important role in the formation or maintenance of the multilamellar structure of myelin.Corpus callosotomy: Corpus callosotomy is a palliative surgical procedure for the treatment of seizures. As the corpus callosum is critical to the interhemispheric spread of epileptic activity, the procedure seeks to eliminate this pathway.Chromosome regionsRenshaw cell: Renshaw cells are inhibitory interneurons found in the gray matter of the spinal cord, and are associated in two ways with an alpha motor neuron.Astacin: In molecular biology, astacin is a family of metallopeptidases. These metallopeptidases belong to the MEROPS peptidase family M12, subfamily M12A (astacin family, clan MA(M)).Familial thoracic aortic aneurysmAxon guidance: Axon guidance (also called axon pathfinding) is a subfield of neural development concerning the process by which neurons send out axons to reach the correct targets. Axons often follow very precise paths in the nervous system, and how they manage to find their way so accurately is being researched.Microtubule: Microtubules ([+ tube] + [are a component of the [[cytoskeleton], found throughout the [[cytoplasm. These tubular polymers of tubulin can grow as long as 50 micrometres and are highly dynamic.Juvenile primary lateral sclerosis: Juvenile primary lateral sclerosis (JPLS) , also known as primary lateral sclerois (PLSJ), is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. The disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.Hagemoser–Weinstein–Bresnick syndrome: Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989.HydrocephalusLaminectomyHyperintensitySmith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Compound muscle action potential: The compound muscle action potential (CMAP) or compound motor action potential is an electromyography investigation (electrical study of muscle function).Nonsense mutation: In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. It differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid.

(1/189) Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia.

Respiratory chain dysfunction has been identified in several neurodegenerative disorders. In Friedreich's ataxia (FA) and Huntington's disease (HD), where the respective mutations are in nuclear genes encoding non-respiratory chain mitochondrial proteins, the defects in oxidative phosphorylation are clearly secondary. In Parkinson's disease (PD) the situation is less clear, with some evidence for a primary role of mitochondrial DNA in at least a proportion of patients. The pattern of the respiratory chain defect may provide some clue to its cause; in PD there appears to be a selective complex I deficiency; in HD and FA the deficiencies are most severe in complex II/III with a less severe defect in complex IV. Aconitase activity in HD and FA is severely decreased in brain and muscle, respectively, but appears to be normal in PD brain. Free radical generation is thought to be of importance in both HD and FA, via excitotoxicity in HD and abnormal iron handling in FA. The oxidative damage observed in PD may be secondary to the mitochondrial defect. Whatever the cause(s) and sequence of events, respiratory chain deficiencies appear to play an important role in the pathogenesis of neurodegeneration. The mitochondrial abnormalities induced may converge on the function of the mitochondrion in apoptosis. This mode of cell death is thought to play an important role in neurodegenerative diseases and it is tempting to speculate that the observed mitochondrial defects in PD, HD and FA result directly in apoptotic cell death, or in the lowering of a cell's threshold to undergo apoptosis. Clarifying the role of mitochondria in pathogenesis may provide opportunities for the development of treatments designed to reverse or prevent neurodegeneration.  (+info)

(2/189) MR imaging and proton MR spectroscopy in adult Krabbe disease.

We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family, clinical presentation mimicked familial spastic paraplegia. Their MR images showed selective, increased signal intensity on T2-weighted sequences along the corticospinal tracts, most prominently in the proband and barely detectable in her brother. Proton MR spectroscopy showed increased choline and myo-inositol in the affected white matter. In the second family, the clinical presentation differed in that the signs of pyramidal tract involvement were asymmetrical, with concomitant asymmetry on MR images in one. In adults, Krabbe disease may present on MR imaging with selective pyramidal fiber involvement.  (+info)

(3/189) Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised by progressive spasticity of the lower limbs. The SPG4 locus at 2p21-p22 accounts for 40-50% of all AD-HSP families. The SPG4 gene was recently identified. It is ubiquitously expressed in adult and foetal tissues and encodes spastin, an ATPase of the AAA family. We have now identified four novel SPG4 mutations in German AD-HSP families, including one large family for which anticipation had been proposed. Mutations include one frame-shift and one missense mutation, both affecting the Walker motif B. Two further mutations affect two donor splice sites in introns 12 and 16, respectively. RT-PCR analysis of both donor splice site mutations revealed exon skipping and reduced stability of aberrantly spliced SPG4 mRNA. All mutations are predicted to cause loss of functional protein. In conclusion, we confirm in German families that SPG4 mutations cause AD-HSP. Our data suggest that SPG4 mutations exert their dominant effect not by gain of function but by haploinsufficiency. If a threshold level of spastin were critical for axonal preservation, such threshold dosage effects might explain the variable expressivity and incomplete penetrance of SPG4-linked AD-HSP.  (+info)

(4/189) A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disorder characterised by progressive spasticity of the lower limbs. Beside 'pure' forms of HSP, 'complicated' forms are reported, where spasticity occurs associated with additional symptoms. We recently described an Italian family with a complicated dominant form of HSP (SPG9) and we mapped the gene responsible to 10q23.3-q24.2, in a 12cM interval between markers D10S564 and D10S603. The phenotypic manifestations in our family are reminiscent of those already described in a smaller British pedigree. We typed individuals from this British family using markers located in the SPG9 critical interval and haplotype reconstruction showed the disorder co-segregating with SPG9. To characterise the SPG9 region better, we constructed a contig of 22 YACs, assigned it to 18 polymorphic markers and positioned 54 ESTs. Furthermore, we searched for ESTs containing a trinucleotide repeat sequence, since anticipation of symptoms was reported in both families. Finally, analysis of a muscle biopsy specimen from one patient was normal, suggesting that, contrary to SPG7, mitochondrial disturbance could not be a primary feature of SPG9.  (+info)

(5/189) Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation affecting the central nervous system (CNS). They differ clinically in the onset and severity of the motor disability but both are allelic to the proteolipid protein gene (PLP), which encodes the principal protein components of CNS myelin, PLP and its spliced isoform, DM20. We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene. We identified 29 and 4 abnormalities respectively. Patients with PLP mutations presented a large range of disease severity, with a continuum between severe forms of PMD, without motor development, to pure forms of SPG. Clinical severity was found to be correlated with the nature of the mutation, suggesting a distinct strategy for detection of PLP point mutations between severe PMD, mild PMD and SPG. Single amino-acid changes in highly conserved regions of the DM20 protein caused the most severe forms of PMD. Substitutions of less conserved amino acids, truncations, absence of the protein and PLP-specific mutations caused the milder forms of PMD and SPG. Therefore, the interactions and stability of the mutated proteins has a major effect on the severity of PLP-related diseases.  (+info)

(6/189) Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases. We have screened the spastin gene for mutations in 15 families consistent with linkage to the spastin gene locus, SPG4, and have identified 11 mutations, 10 of which are novel. Five of the mutations identified are in noninvariant splice-junction sequences. Reverse transcription-PCR analysis of mRNA from patients shows that each of these five mutations results in aberrant splicing. One mutation was found to be "leaky," or partially penetrant; that is, the mutant allele produced both mutant (skipped exon) and wild-type (full-length) transcripts. This phenomenon was reproduced in in vitro splicing experiments, with a minigene splicing-vector construct only in the context of the endogenous splice junctions flanking the splice junctions of the skipped exon. In the absence of endogenous splice junctions, only mutant transcript was detected. The existence of at least one leaky mutation suggests that relatively small differences in the level of wild-type spastin expression can have significant functional consequences. This may account, at least in part, for the wide ranges in age at onset, symptom severity, and rate of symptom progression that have been reported to occur both among and within families with SPG linked to SPG4. In addition, these results suggest caution in the interpretation of data solely obtained with minigene constructs to study the effects of sequence variation on splicing. The lack of full genomic sequence context in these constructs can mask important functional consequences of the mutation.  (+info)

(7/189) The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.  (+info)

(8/189) Survey of human mitochondrial diseases using new genomic/proteomic tools.

BACKGROUND: We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and characterizing the context of protein mutations that give rise to human mitochondrial diseases. (Bayesian priors are conditional probabilities that allow the estimation of the likelihood of an event - such as an amino-acid substitution - on the basis of prior occurrences of similar events.) Because these profiles can assemble sets of taxonomically very diverse homologs, they enable identification of the structurally and/or functionally most critical sites in the proteins on the basis of the degree of sequence conservation. These profiles can also find distant homologs with determined three-dimensional structures that aid in the interpretation of effects of missense mutations. RESULTS: This survey reports such an analysis for 15 missense mutations, one insertion and three deletions involved in Leber's hereditary optic neuropathy, Leigh syndrome, mitochondrial neurogastrointestinal encephalomyopathy, Mohr-Tranebjaerg syndrome, iron-storage disorders related to Friedreich's ataxia, and hereditary spastic paraplegia. We present structural correlations for seven of the mutations. CONCLUSIONS: Of the 19 mutations analyzed, 14 involved changes in very highly conserved parts of the affected proteins. Five out of seven structural correlations provided reasonable explanations for the malfunctions. As additional genetic and structural data become available, this methodology can be extended. It has the potential for assisting in identifying new disease-related genes. Furthermore, profiles with structural homologs can generate mechanistic hypotheses concerning the underlying biochemical processes - and why they break down as a result of the mutations.  (+info)



autosomal recessive spastic paraplegia

  • Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). (wikipedia.org)
  • Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. (wikipedia.org)

paraparesis

  • HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, or Strumpell-Lorrain disease. (wikipedia.org)
  • Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia as well as fatty acid hydroxylase-associated neurodegeneration. (wikipedia.org)

mutation

  • A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (jax.org)
  • A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia, however the Pathogenicity of the mutation, which may simply represent a Polymorphism (biology), is unclear. (wikipedia.org)

spasticity

  • It is a frequently misdiagnosed condition which causes progressive weakness or paraplegia and increased spasticity or muscle tone and stiffness of leg muscles. (rightdiagnosis.com)
  • Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms. (wikipedia.org)
  • Aims to find a cure for hereditary spastic paraplegia, a degenerative, hereditary disease affecting mainly the lower limbs, causing spasticity and severely impairing mobility. (dmoztools.net)
  • It has an intermediate progression and causes symptoms that include spasticity, exaggerated reflex responses and spastic gait, ataxia and upper motor neuron signs. (wikipedia.org)

locus

  • Autosomal dominant hereditary spastic paraplegia (HSP) has been shown, through analysis of a Caucasian kindred, to have a novel locus on chromosome 8q23-24. (readabstracts.com)

familial spastic

  • HSP, also called familial spastic paraplegia, was initially referred to as Strumpell-Lorrain disease, a name given for the two physicians who in the late 19th century independently described key features of spastic paraplegia. (uptodate.com)
  • For people suffering from Familial Spastic Paraplegia. (dmoztools.net)

thin corpus callosum

  • Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and approximately 35% of patients carry mutations in either of the SPG11 or SPG15 genes. (diva-portal.org)

primary lateral s

  • Supports on the upper motor neuron disorders hereditary spastic paraplegia and primary lateral sclerosis. (dmoztools.net)

gait

  • Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. (wikipedia.org)
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. (wikipedia.org)
  • Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time. (wikipedia.org)

mental impairment

  • Disease onset is during the first three decades of life with spastic paraplegia and mental impairment. (diva-portal.org)
  • We identified five patients in four unrelated kindreds with spastic paraplegia and mental impairment. (diva-portal.org)

clinical

  • HSPs are clinically differentiated into 'pure' forms if spastic paraplegia with bladder involvement is the only clinical finding, and 'complicated' (or complex) forms if there are additional neurologic or systemic abnormalities. (uptodate.com)
  • Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. (bmj.com)

HSPs

  • Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). (wikipedia.org)

GeneReviews

  • GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 4 Kikuno R, Nagase T, Ishikawa K, et al. (wikipedia.org)
  • GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin Maruyama K, Sugano S (1994). (wikipedia.org)

1983

  • The term hereditary spastic paraplegia was coined by Anita Harding in 1983. (wikipedia.org)

SPG2

  • The genetic loci are designated as SPG (for SPastic parapleGia) and are numbered sequentially as SPG1, SPG2, SPG3, and so on ( table 1 ). (uptodate.com)

type

  • T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. (curehunter.com)
  • Two forms of dominant hereditary spastic paraplegia were identified: one with an age of onset mostly below 35 years (type I), and the other onset usually over 35 years (type II). (bmj.com)
  • however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. (wikipedia.org)
  • Mutations in this gene have been associated with hereditary spastic paraplegia type 23. (wikipedia.org)

disease

  • Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6. (wikipedia.org)

inheritance

  • In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. (bmj.com)

cause

  • Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. (wikipedia.org)
  • Mutations in this gene cause autosomal dominant spastic paraplegia 10. (wikipedia.org)
  • Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema. (wikipedia.org)

form

  • HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. (wikipedia.org)

group

  • Hereditary spastic paraplegia (HSP) refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. (uptodate.com)
  • Hereditary spastic paraplegia is a group of more than 20 inherited neurological disorders. (rightdiagnosis.com)
  • HOUSTON -- (July 8, 2011) -- New research from Rice University and Italy's Eugenio Medea Scientific Institute is yielding clues about hereditary spastic paraplegia (HSP), a group of inherited neurological disorders that affect about 20,000 people in the United States. (bio-medicine.org)

families

  • REEP2 mutations have been reported in families with hereditary spastic paraplegia. (wikipedia.org)

forms

  • Hereditary spastic paraplegias include autosomal dominant, autosomal recessive, and X-linked forms. (uptodate.com)
  • Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. (curehunter.com)
  • Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia. (wikipedia.org)