Abstract Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. [trace.ddbj.nig.ac.jp]

HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

Most patients presented with spastic paraparesis. Additional features included ataxia, dystonia, intellectual impairment, myoclonus, and parkinsonism. One patient presented with pure sensory and motor neuropathy. [ng.neurology.org]

Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. [mobile.fluidigm.com]

CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. [hspersunite.org.au]

• Anemia

  Hereditary orotic aciduria with epilepsy and without megaloblastic anemia. Neuropediatrics 46:123–125 Google Scholar 111. [link.springer.com]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Muscle Spasticity

  To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

  A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16 :473–485. PubMed Google Scholar 55. [link.springer.com]

• Incontinence

  During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory. [nature.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [genecards.org]

  […] palsy ( facial paralysis ) Carpal tunnel syndrome (hand paralysis; wrist paralysis; finger paralysis) Cubital tunnel syndrome Footdrop (foot paralysis; foot weakness ) Wristdrop Cauda equina syndrome (lower body paralysis, autonomic nerve paralysis, incontinence [familydiagnosis.com]

  She developed urinary incontinence, and urological workup disclosed a spastic bladder. No dementia was evident. [ng.neurology.org]

• Urinary Incontinence

  She developed urinary incontinence, and urological workup disclosed a spastic bladder. No dementia was evident. [ng.neurology.org]

  SPG48 Two siblings in the one French family have pure adult-onset spastic paraplegia and urinary incontinence with hyperintensity of the cervical spinal cord (C3-4,7) in one sibling as the only distinguishing magnetic resonance imaging (MRI) feature [ [intechopen.com]

  During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory. [nature.com]

• Spastic Paraplegia

  AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia Schlipf, N.A., Schüle, R., Klimpe, S. et al. [mobile.fluidigm.com]

  spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia Spastic paraplegia type 2 Spastic paraplegia type 7 X-linked complex spastic paraplegia X-linked pure spastic paraplegia X-linked spastic [se-atlas.de]

  Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

  Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. [ghr.nlm.nih.gov]

  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 ; 7 : 1127 - 1138. 2. Fink, JK. Hereditary spastic paraplegia overview. In: Pagon RA, Adam MP, Ardinger HH, et al ., editors. GeneReviews. [cambridge.org]

• Ataxia

  Keywords: Recessive ataxia Friedreich ataxia Ataxia-telangiectasia Refsum disease Wilson disease Niemann-Pick disease type C Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo [elsevier.es]

  Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. [karger.com]

  Abstract Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. [trace.ddbj.nig.ac.jp]

  Although prior reports identified prominent spasticity and ataxia in AP5Z1 patients, 1, 2 the patients in our series exhibited a diverse spectrum of movement disorders, including ataxia, myoclonus, spasticity, dystonia, and parkinsonism. [ng.neurology.org]

  (SCAs), Friedreich ataxia, spastic ataxia of Charlevoix-Saguenay, etc. [centogene.com]

• Cerebellar Ataxia

  Abstract Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. [trace.ddbj.nig.ac.jp]

  Palau F, Espinós C: Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;1:47. le Ber I, Brice A, Dürr A: New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep 2005;5: 411-417. [karger.com]

  The term spinocerebellar ataxia is used to describe progressive ataxias following an autosomal dominant inheritance pattern, whereas recessive ataxias characterised mainly by cerebellar atrophy are referred to as autosomal recessive cerebellar ataxias [elsevier.es]

  HSP due to LYST mutation We encountered an autosomal-recessive (AR) HSP family with cerebellar ataxia and neuropathy whose gene locus was not linked to previously reported AR-HSP loci. [intechopen.com]

  Clinically, they are classified as “pure” when spastic paraplegia exists in isolation and as “complicated” when other major clinical features such as mental retardation, optic atrophy, retinopathy, ichthyosis, ataxia, deafness, cerebellar signs, muscle [neurologyindia.com]

• Dystonia

  Mild foot dystonia was seen, greater in the left than in the right, with curling of the toes. Gait was both spastic and parkinsonian (video 2). [ng.neurology.org]

  They're all characterized by variable presentation of chorea, dystonia, and parkinsonism, cognitive impairment, and psychiatric disturbance. 0:31 The CAG repeat diseases comprise Huntington's disease, DRPLA, SBMA, and SCA1, 2, 3, 6, 7 and 17. [hstalks.com]

  Both patients had complicated HSP with activity-induced dystonia, suggesting dystonia as an additional finding in SPG56. [hspersunite.org.au]

  Mov Disord 20:1345–1349 CrossRef PubMed Google Scholar Petrucci S, Valente EM (2013) Genetic issues in the diagnosis of dystonia. [link.springer.com]

  Pure cerebellar syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, [elsevier.es]

• Spastic Gait

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

  Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

  […] paraplegia (HSP) is heterogeneous group of genetically inherited disorders mainly characterized by spastic gait impairment. [hspersunite.org.au]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

  Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

She developed urinary incontinence, and urological workup disclosed a spastic bladder. No dementia was evident. [ng.neurology.org]

• White Matter Lesions

  The T2 high-signal-intensity lesions in the white matter were present in 6 of 9 patients (67%), all members of families I and III. Those white matter lesions were mild and located in the periventricular white matter and centrum semiovale. [ajnr.org]

  MRI of the brain disclosed white matter lesions affecting the basal ganglia and deep white matter and focal atrophy of the corpus callosum ( figure 1 ), while a full spine MRI was normal. [ng.neurology.org]

  There are occasional reports of mild to moderate atrophy of intracranial structures, particularly the corpus callosum, and also of white matter lesions in the cerebral hemispheres. 15 71 79 80 However, marked atrophy or changes in white matter on MRI [jnnp.bmj.com]

The effects of treatment with recombinant human growth hormone on body composition and metabolism in adults with growth hormone deficiency. ‎ [books.google.it]

The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments from the perspective of cutting edge clinical and [books.google.com]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Lancet Neurol 9:885–894 CrossRef PubMed Google Scholar Ehlert K, Frosch M, Fehse N et al (2007) Farber disease: clinical presentation, pathogenesis and a new approach to treatment. [link.springer.com]

Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [nature.com]

Prognosis Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [ipfs.io]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]

Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [genecards.org]

Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 ↵ Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. [ajnr.org]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

Consequently, they are often approached together in epidemiological studies. [karger.com]

Relevant External Links for SPG11 Genetic Association Database (GAD) SPG11 Human Genome Epidemiology (HuGE) Navigator SPG11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPG11 No data available for Genatlas for SPG11 Gene Mutations in [genecards.org]

Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [^] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [^] 7. [moldiag.com]

Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively [mayomedicallaboratories.com]

J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review). [link.springer.com]

Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]

Conclusions: Our findings expand the spectrum of AP5Z1 -associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders. [ng.neurology.org]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two [wikivisually.com]