• [ 4 ] HSP is also called familial spastic paraparesis and Strümpell-Lorrain syndrome. (medscape.com)
  • A 34-year-old white male was admitted to São Paulo University Hospital in Ribeirão Preto, for investigation of spastic paraparesis. (scielo.br)
  • Whereas all patients showed clinical signs of spastic paraparesis, MEPs were normal in 27% of patients and revealed a broad spectrum with axonal or demyelinating features in the others. (biomedcentral.com)
  • Diagnostic criteria for HSP included (i) spastic paraparesis or spastic tetraparesis with legs earlier and more severely affected than arms or (ii) spastic paraparesis as early and prominent sign of a neurodegenerative multisystem disease after exclusion of other causes. (biomedcentral.com)
  • To exclude secondary forms of spastic paraparesis standard diagnostic procedures covered MRI of head and spine, vitamin B12 and folic acid levels, very long chain fatty acids (VLCFA), neurometabolic screening (Krabbe disease, metachromatic leukodystrophy, GM1-gangliosidosis, GM2-gangliosidoses Tay Sachs and Sandhoff, Gaucher disease) and cerebrospinal fluid analysis. (biomedcentral.com)
  • Because patients with both disorders can present with slowly progressive spastic paraparesis (weakness in the legs), accurate diagnoses are often challenging. (rarediseasesnetwork.org)
  • A 29-year-old man was admitted on November 25, 2009, because of a progressive spastic paraparesis which had proceeded over the previous 2 months. (openventio.org)
  • Spastic paraparesis was observed. (openventio.org)
  • Mast syndrome (SPG21) is a childhood-onset, autosomal recessive, complicated form of hereditary spastic paraplegia (HSP) characterized by dementia, thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic paraparesis. (inrae.fr)
  • A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. (nih.gov)
  • The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. (bioworldantibodies.com)
  • 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) encompass a group of neurodegenerative disorders with lower limb spasticity due to degeneration of the corticospinal tract as most prominent sign. (biomedcentral.com)
  • And this gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome. (bioworldantibodies.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)
  • In this review, we will discuss the role of genetic variants in hereditary and sporadic neurodegenerative disorders and the insights to etiology and pathogenic mechanisms afforded by advances in genetic sequencing and analysis. (biomedcentral.com)
  • Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (medscape.com)
  • AIM: To investigate molecular, clinical and genealogical characteristics of SPG4 in a first representative Russian group, to estimate SPG4 proportion among all DNA-diagnosed spastic paraplegias. (hspersunite.org.au)
  • MATERIAL AND METHODS: Fifty unrelated Russian families with SPG4 detected in the course of clinical and molecular studies of spastic paraplegias were studied. (hspersunite.org.au)
  • Hereditary spastic paraplegia type 4 (SPG4) in Russian patients. (hspersunite.org.au)
  • We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein. (hspersunite.org.au)
  • The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. (bvsalud.org)
  • The team assessed sNfl and sGFAP levels in 25 patients with PPMS, 25 patients with spastic paraplegia type 4 (SPG4, the most common type of HSP), and 60 control subjects. (rarediseasesnetwork.org)
  • SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. (rug.nl)
  • She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. (medscape.com)
  • Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al. (nih.gov)
  • SENDA is a recently established subtype of neurode-generation with brain iron accumulation 14 that begins with early-onset spastic paraplegia and mental retardation, which remain static until adulthood. (nature.com)
  • Hereditary spastic paraplegia (HSP) is a group of degenerative genetic disorders involving the spinal cord which are characterized by stiffness and progressive weakness of the affected person's legs. (disabled-world.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)
  • Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. (medlineplus.gov)
  • These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). (medlineplus.gov)
  • The most common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. (medlineplus.gov)
  • 128 patients (58 women, 70 men) from 109 families were recruited by specialised HSP outpatient clinics in Bochum, Kiel, and Tübingen, Germany, in the context of the German Network of Hereditary Movement Disorders (GeNeMove). (biomedcentral.com)
  • BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (cdc.gov)
  • Clinically and genetically heterogeneous hereditary spastic paraplegia (HSP) is a group of disorders in which primary symptom is insidiously progressive spasticity (rigid muscles) and weakness of the lower limbs. (preventiongenetics.com)
  • Primary progressive multiple sclerosis (PPMS) and hereditary spastic paraplegia (HSP) are inherited disorders affecting nerves that send messages to the muscles. (rarediseasesnetwork.org)
  • PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, which typically suppresses formation of tumors. (rarediseasesnetwork.org)
  • Among the simple Mendelian disorders of humans, Werner syndrome most closely resembles an acceleration of normal aging. (yale.edu)
  • Moreover, our laboratory in the Neuromuscular Disorders Unit of the Neurology Department, has a twenty-year history of providing clinical care and research in Amyotrophic Lateral Sclerosis (ALS) and other motor neuron diseases (hereditary spastic paraplegias, postpolio syndrome, Hirayama's disease, spinal muscular atrophies), myasthenia gravis, genetically determined myopathies, and peripheral neuropathies. (tricals.org)
  • Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. (scielo.br)
  • Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of diseases involving weakness and spasticity of the lower extremities combined with additional neurological or non-neurological manifestations ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • 9 On clinical grounds, spastic paraplegias are characterised by spasticity, hyperreflexia, and progressive lower limb paresis. (bmj.com)
  • Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. (biomedcentral.com)
  • Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. (nih.gov)
  • Strümpell first described hereditary forms of spastic paraplegia (see the image below) in 1883, with Lorrain later providing more extensive detail. (medscape.com)
  • Therapeutics trials in other forms of early onset hereditary spastic paraplegia are ongoing and include cholesterol lowering drugs, antioxidants, potassium channel blockers, MGLL inhibitors among others. (wikipedia.org)
  • There is a rare form of infantile-onset ascending hereditary spastic paralysis (IAHSP) that is considered by some in the field of medical research to be a rare type of hereditary spastic paraplegia. (disabled-world.com)
  • In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. (rug.nl)
  • Hereditary spastic paraplegia (HSP) a degenerative genetic disorder with stiffness and weakness of leg and hip muscles gait difficulties and issues with walking. (disabled-world.com)
  • Genetically defined HSPs are assigned the symbol SPG (spastic gait) followed by a number. (biomedcentral.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)
  • PLS may be underdiagnosed early in the disease because it can often present like other diseases such as: ALS, hereditary spastic paraplegia (HSP) syndromes or multiple sclerosis (MS). Our Synapticure neurologists will make sure that you have all of the proper testing done and in place so that your diagnosis is an accurate one. (synapticure.com)
  • Even in diseases that are hereditary with a clear genetic contribution, the clinical diagnosis remains difficult due to significant heterogeneity both in clinical features and genetic causes. (biomedcentral.com)
  • There is significant overlap in clinical features of the two syndromes that makes diagnosis based on phenotype alone difficult. (biomedcentral.com)
  • INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. (bvsalud.org)
  • PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. (bvsalud.org)
  • A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. (bvsalud.org)
  • Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. (bvsalud.org)
  • CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. (bvsalud.org)
  • With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted. (biomedcentral.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)
  • Warburg Micro is caused by mutations in any of the following genes: RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 Warburg Micro syndrome is diagnosed by genetic testing. (wikipedia.org)
  • however, only the 2 subtypes involving mutations of SPG11 and SPG15 are associated with Kjellin's syndrome ( 1 1 Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. (scielo.br)
  • Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. (scielo.br)
  • BACKGROUND: Mutations in the SPAST gene are the most frequent cause of hereditary spastic paraplegia (HSP). (hspersunite.org.au)
  • Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. (cdc.gov)
  • His group discovered new sorting signals and adaptor proteins, and applied this knowledge to the elucidation of the causes of various human diseases including the Hermansky-Pudlak syndrome type 2 and hereditary spastic paraplegias. (nih.gov)
  • Kessler C, Ruschil C, Abdelhak A, Wilke C, Maleska A, Kuhle J, Krumbholz M, Kowarik MC, Schüle R. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. (rarediseasesnetwork.org)
  • Warburg Micro syndrome (WARBM), also known as Spastic Paraplegia 69 (SPG69) or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism. (wikipedia.org)
  • Optic Atrophy (OA) is the most prevalent inherited optic neuropathy besides Leber's hereditary optic neuropathy (LHON). (preventiongenetics.com)
  • Phenotype-genotype studies found that 20% of DOA patients develop a more severe phenotype called "DOA plus" (DOA+), which is characterized by extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts (Yu-Wai-Man et al. (preventiongenetics.com)
  • Fink JK, Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. (medscape.com)
  • Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. (cdc.gov)
  • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. (medscape.com)
  • There is no specific treatment for Warburg Micro syndrome, but there are ways to help the symptoms that come with it. (wikipedia.org)
  • People with Troyer syndrome can experience a variety of signs and symptoms. (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)
  • Serotonin syndrome ( SS ) is a group of symptoms that may occur with the use of certain serotonergic medications or drugs . (wikipedia.org)
  • [2] Other conditions that can produce similar symptoms such as neuroleptic malignant syndrome , malignant hyperthermia , anticholinergic toxicity , heat stroke , and meningitis should be ruled out. (wikipedia.org)
  • What are the symptoms of post-polio syndrome? (uky.edu)
  • Symptoms of post-polio syndrome tend to show up very slowly. (uky.edu)
  • Doctors diagnose post-polio syndrome based on your symptoms, medical history, and lab tests. (uky.edu)
  • If your symptoms and history point to post-polio syndrome, and if tests cannot find another cause, then your doctor may diagnose post-polio syndrome. (uky.edu)
  • Spastic paraplegia 11 (SPG11) should be suspected in individuals with the following clinical and imaging findings. (nih.gov)
  • Current work focuses on therapeutics in Juvenile Neuronal Ceroid Lipofuscinosis and on the epidemiology of Tourette Syndrome in minorities. (childneurologysociety.org)
  • 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)
  • This is the first time that disc herniation and the associated neurological syndrome has been linked to a human chromosomal region. (bmj.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)
  • Troyer syndrome: a combination of central brain abnormality and motor neuron disease? (medlineplus.gov)
  • The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. (scielo.br)
  • Individuals with this syndrome present with macular changes, most often described as fundus flavimaculatus or Stargardt disease-like, particularly on the basis of fluorescein angiography findings ( 3 3 Puech B, Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, et al. (scielo.br)
  • Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease in which the body's immune system attacks the tissue where nerves and muscles meet, the neuromuscular junction. (uky.edu)
  • 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 paraplegia: clinical features and pathogenetic mechanisms. (medscape.com)
  • Troyer syndrome causes the degeneration and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person's lifetime, leading to a slow progressive decline in muscle and nerve function. (medlineplus.gov)
  • We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). (scielo.br)
  • Here we describe ophthalmological findings in a patient with Kjellin's syndrome, extending previous reports by demonstrating retinal functional and multimodal retinal imaging studies. (scielo.br)