• Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. (medscape.com)
  • Spastic paraplegia type 5A is usually a pure hereditary spastic paraplegia, although complex type features have been reported in some individuals, usually in those who have had the condition for many years. (medlineplus.gov)
  • Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. (nih.gov)
  • A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. (orpha.net)
  • Reid E. Pure hereditary spastic paraplegia. (medscape.com)
  • Spastic paraplegia is a form of paraplegia defined by spasticity of the affected muscles, rather than flaccid paralysis. (wikipedia.org)
  • Spinal Cord Injury at The Mayo Clinic Types of Paralysis at Spinalcord.com Look up paraplegia in Wiktionary, the free dictionary. (wikipedia.org)
  • Paraplegia is paralysis of the lower extremities. (ckfirm.com)
  • Paraplegia should not be confused with hemiplegia, which is paralysis of just one side of the body. (bchlaw.com)
  • Affecting segments from T1 to L5, paraplegia typically results in some type of leg paralysis, and arms and hands are usually not affected. (laspine.com)
  • Paraplegia and spinal paralysis. (ed.ac.uk)
  • Scope and Contents Lecture by Norman Dott, 'Paraplegia and spinal paralysis. (ed.ac.uk)
  • Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)
  • CYP7B1 gene mutations that cause spastic paraplegia type 5A reduce or eliminate the activity of oxysterol 7-alpha-hydroxylase. (medlineplus.gov)
  • I copied this from a post in another group PLS study, at Mass General in Boston, Dr. Paganoni recently received the Virginia Sweeney Fellowship to study PLS from the Spastic Paraplegia Foundation. (alsforums.com)
  • Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias. (medlineplus.gov)
  • Hereditary spastic paraplegias are often divided into two types: pure and complex. (medlineplus.gov)
  • Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. (nih.gov)
  • Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. (biomedcentral.com)
  • Hereditary spastic paraplegias (HSPs) encompass a group of neurodegenerative disorders with lower limb spasticity due to degeneration of the corticospinal tract as most prominent sign. (biomedcentral.com)
  • Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. (medscape.com)
  • Hereditary spastic paraplegias: an update. (medscape.com)
  • Advances in the hereditary spastic paraplegias. (medscape.com)
  • Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. (medscape.com)
  • Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (medscape.com)
  • Spastic paraplegia 11 (SPG11) should be suspected in individuals with the following clinical and imaging findings. (nih.gov)
  • In terms of clinical manifestations, in addition to spastic paraplegia, three adrenomyeloneuropathy probands also had adrenocortical insufficiency, two Alexander disease probands developed urinary retention, one CTX proband developed cataracts and chronic diarrhea and the other presented with chronic diarrhea and mild tendon xanthomatosis. (dovepress.com)
  • Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy (ALD) and Krabbe disease (KD), may present as spastic paraplegia (SP) without leukodystrophy on neuroimaging and be easily misdiagnosed as hereditary spastic paraplegia (HSP) on clinical grounds. (dovepress.com)
  • Magnetic resonance images of a 4-year-old sexually intact male mixed-breed dog that was referred for evaluation of clinical signs of acute-onset pelvic limb ataxia, rapidly progressing to paraplegia with severe spinal hyperesthesia. (avma.org)
  • 9 On clinical grounds, spastic paraplegias are characterised by spasticity, hyperreflexia, and progressive lower limb paresis. (bmj.com)
  • Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. (medscape.com)
  • Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. (medscape.com)
  • On the whole, a susceptibility locus for disc herniation and autosomal recessive spastic paraplegia was found on chromosome 6q23.3-q24.1. (bmj.com)
  • Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (medscape.com)
  • These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed. (torvergata.it)
  • Despite the delayed surgery taking place, this was too late to restore her neurology and she was left with an incomplete spinal cord injury and permanent paraplegia. (stewartslaw.com)
  • The signs and symptoms of spastic paraplegia type 5A usually appear in adolescence but can begin at any time between infancy and mid-adulthood. (medlineplus.gov)
  • The loss of these cells results in the deterioration of nervous system functions (neurodegeneration) and causes the movement problems, weakness, and other signs and symptoms of spastic paraplegia type 5A. (medlineplus.gov)
  • There is currently no treatment for hereditary spastic paraplegia (HSP), a set of genetic illnesses whose symptoms include muscle weakness and stiffness, and in some cases cognitive impairments. (news-medical.net)
  • As many of you know, I was originally diagnosed with the upper motor neuron disorder, hereditary spastic paraplegia, but a change in symptoms, no family history, and ambiguous. (alsforums.com)
  • My current diagnosis is hereditary spastic paraplegia, but I have no family history of it and my symptoms don't really. (alsforums.com)
  • Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. (nih.gov)
  • Patients with late-onset spastic paraplegia should be screened for underlying leukodystrophies, irrespective of the presence of additional complicating symptoms and neuroimaging abnormalities. (dovepress.com)
  • Paraplegia can be diagnosed by its basic symptoms and a few tests can be run also to find out the internal damages. (medanta.org)
  • Let us now discuss the causes, symptoms, and treatment of paraplegia. (medanta.org)
  • Paraplegia symptoms can differ from person to person and may not show at the same time as well. (medanta.org)
  • Depression is also seen to be one of the significant symptoms of paraplegia as the patient's will is deteriorating. (medanta.org)
  • Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. (msdmanuals.com)
  • Abstract Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. (symptoma.com)
  • Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. (lookformedical.com)
  • Treatment for all forms of hereditary spastic paraplegia is symptomatic. (msdmanuals.com)
  • In all forms of hereditary spastic paraplegia, the descending corticospinal tracts and, to a lesser extent, the dorsal columns and spinocerebellar tracts degenerate. (msdmanuals.com)
  • I have a UMN diagnosis of hereditary spastic paraplegia that. (alsforums.com)
  • Failure to rule out reversible forms of spinal cord lesions (mechanical cord compression or spinal cord tumor) when considering a diagnosis of hereditary spastic paraplegia (HSP) invites problems. (medscape.com)
  • Diagnosis of hereditary spastic paraplegia is by exclusion of other causes and sometimes (eg, if the cause is unclear) by genetic testing. (msdmanuals.com)
  • AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. (nih.gov)
  • These disorders are characterized by muscle stiffness (spasticity) and severe weakness in the lower limbs (paraplegia). (medlineplus.gov)
  • In addition to spasticity and weakness, people with spastic paraplegia type 5A can lose the ability to sense the position of their limbs or detect vibrations with their lower limbs. (medlineplus.gov)
  • Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. (mendelian.co)
  • The Igenomix Hereditary Spastic Paraplegia Precision Panel can serve as a n accurate and directed diagnostic tool as well as a differential diagnosis of muscle weakness ultimately leading to a better management and prognosis of the disease. (igenomix.it)
  • Paraplegia causes weakness and the loss of muscle function in the lower portion of the body. (chattanoogatnlawfirm.com)
  • Hereditary spastic paraplegia type 18 (HSP18) is a complicated form of autosomal recessive HSP characterized by progressive weakness and spasticity of the lower extremities, dysarthria , and cognitive decline. (symptoma.com)
  • The objective of this study was to investigate the frequency of late-onset leukodystrophies in patients with spastic paraplegia. (dovepress.com)
  • Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare complex type of hereditary spastic paraplegia characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently) reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. (globalgenes.org)
  • We performed genetic analysis using a custom-designed gene panel for leukodystrophies in 112 hereditary spastic paraplegia-like patients. (dovepress.com)
  • If that injury was sustained at the fault of another, patients diagnosed with paraplegia may have legal recourse to recover financial compensation. (bchlaw.com)
  • Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. (medscape.com)
  • Scientists at The Scripps Research Institute (TSRI) have discovered that a gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain. (news-medical.net)
  • The function of SPTAN1 mutations in uncommon neurological diseases such as ataxia and spastic paraplegia was explored. (physiciansweekly.com)
  • Any sort of disturbance in the neurological part of the brain which controls the movements of the body can also be a reason for paraplegia. (medanta.org)
  • 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (nih.gov)
  • Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. (medscape.com)
  • The area of the spinal canal that is affected in paraplegia is either the thoracic, lumbar, or sacral regions. (wikipedia.org)
  • People who have paraplegia have usually suffered injury to the thoracic, lumbar, or sacral regions of their spinal canal. (bchlaw.com)
  • We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. (torvergata.it)
  • In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. (torvergata.it)
  • Spastic paraplegia type 5A is caused by mutations in the CYP7B1 gene. (medlineplus.gov)
  • SPTAN1 is a potential gene for ataxia and spastic paraplegia, according to the findings. (physiciansweekly.com)
  • Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (medscape.com)
  • Bahemuka M and Brown JD (1982) Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in live siblings. (symptoma.com)
  • Fink JK, Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. (medscape.com)
  • in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. (torvergata.it)
  • The legs are most affected by paraplegia, a type of spinal cord injury that results from damage to the thoracic spine, the part of the backbone that runs from the bottom of the neck to the abdomen. (laspine.com)
  • Central nervous system: Any disease process affecting the pyramidal tract of the spinal cord from the thoracic spine downward may lead to paraplegia, as this structure transmits "instructions" for movement from the brain to the anterior horn. (the-medical-dictionary.com)
  • Hereditary spastic paraplegia is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. (msdmanuals.com)
  • It is usually the result of spinal cord injury or a congenital condition such as spina bifida, but polyneuropathy may also result in paraplegia. (the-medical-dictionary.com)
  • This form of damage is not usually symmetrical and would not cause paraplegia, but polyneuropathy may cause paraplegia if motor fibres are affected. (the-medical-dictionary.com)
  • Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. (bvsalud.org)
  • In addition, they found a recurrent missense mutation (p.Arg19Trp) in 15 individuals with spastic paraplegia from seven families, with a dominant inheritance pattern in four cases and a de novo origin in one. (physiciansweekly.com)
  • The disorder I've been diagnosed with, hereditary spastic paraplegia, typically affects mostly the legs and generally does not cause atrophy, a lower. (alsforums.com)
  • SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. (medscape.com)
  • Core features include hypotonia that progresses to hypertonia and spastic paraplegia , intellectual disability , postnatal microcephaly , epilepsy , and neuroimaging features. (bvsalud.org)
  • I was recently told by the neurologist that he thinks I have hereditary spastic paraplegia, I was wondering if anyone could tell me if this comes in flare ups/exacerbations. (alsforums.com)
  • A family with consanguineous parents and four of eight sibs affected by multiple disc herniations and spastic paraplegia was clinically and genetically analysed. (bmj.com)
  • Spastic paraplegia type 5A is a rare condition. (medlineplus.gov)
  • Based on the latest data available there are 1 families with X-LINKED SPASTIC PARAPLEGIA TYPE 16 in Europe. (mendelian.co)
  • X-linked Spastic Paraplegia Type 16 Is also known as spg16. (mendelian.co)
  • Newly diagnosed with Autosomal recessive spastic paraplegia type 57? (globalgenes.org)
  • This study aims at examining the body image of people with physical disabilities, specifically with non congenital paraplegia. (bvsalud.org)
  • demonstrate through studies on induced pluripotent stem cell-derived cortical neurons that miR-33a is a potential therapeutic target for the treatment of SPG4-related hereditary spastic paraplegia. (portlandpress.com)