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Autosomal Recessive Spastic Paraplegia Type 63

Spastic Paraplegia 63


Presentation

  • 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]
  • Hypertrophic cardiomyopathy and diabetes are common presentations of the condition.[elsevier.es]
  • Vision: Continuum: Lifelong Learning in Neurology will present the highest quality in-depth information on topics in neurology and be the premier continuing medical education publication for neurology professionals.[aan.com]
  • 雑誌名 Mov Disord 巻 : 28 ページ : 552-553 DOI 査読あり [雑誌論文] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. 2013 著者名/発表者名 Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima[kaken.nii.ac.jp]
  • The disease presented with either motor/gait impairment (11 patients, 61%) or learning difficulties (7 patients, 39%) between the ages of 4 months and 14 years (mean 7.9 years).[nature.com]
Splenomegaly
  • Patients often have a history of splenomegaly and prolonged neonatal jaundice. MRI scans reveal brain, cerebellar, and brainstem atrophy ( Fig. 2 C).[elsevier.es]
Epilepsy
  • Read More About Neuroimmunology & Neuroinflammation C93: Advances in Neurogenetics ... spastic paraplegia and epilepsy.[aan.com]
  • In some cases symptoms also include lactic acidosis, epilepsy, myopathy with ragged red fibres, and liver disease.[elsevier.es]
  • Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F and Matsumoto N 雑誌名 Intern Med 巻 : in press ページ : in press 査読あり [雑誌論文] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy[kaken.nii.ac.jp]
  • On the other hand, HSP is classified as complex or complicated when associated with other neurological signs, including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction or epilepsy, or with extraneurological signs.[ipfs.io]
  • RYR2, PLN Ataxia Teleangiectatica (ATM) ATM Ataxia-Teleangiectasia-like Syndrom MRE11A, SETX, APTX Ataxie-Okulomotorische Apraxie; AOA APTX, SETX Autoimmune polyendocrinopathy syndrome , type I (APECD) AIRE Autosomal Dominante Nächtliche Frontallappen Epilepsy[meduniwien.ac.at]
Movement Disorder
  • Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.[en.wikipedia.org]
  • 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]
  • Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with stiff-person syndrome and other movement disorders.[ncbi.nlm.nih.gov]
Amyloidosis
  • Erythrokeratodermie GJB4, LOR Erythromelalgie SCN9A Escobar syndrome, Multiple pterygium syndrome, lethal type CHRNG Exudative vitreoretinopathy FZD4, NDP, TSPAN12 Facio-scapulo-humerale Dystrophie FSHD Factor XIII deficiency F13A1, F13B Familial Transthyretin Amyloidosis[meduniwien.ac.at]
Tremor
  • […] 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, parkinsonism, tremor[elsevier.es]
  • DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATROFIA SPINODENTATA ATASSIA PERIODICA ATASSIA VESTIBULOCEREBELLARE MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE DEFICIENZA FAMILIARE DI VITAMINA E ATASSIA-TELEANGECTASIA LOUIS-BAR, SINDROME DI SINDROME CON TREMORE[retemalattierare.it]
Poor Coordination
  • coordination, gait and language acquisition disorders, and gelastic cataplexy; the juvenile form causes ataxia, epilepsy, cataplexy, and poor school performance; and the adult form causes psychiatric disorders, ataxia, dystonia, and dementia. 55 New[elsevier.es]

Treatment

  • 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]
  • There is no specific treatment for AT.[elsevier.es]
  • Stephens about causes, symptoms, and treatments for hereditary spastic paraplegia (HSP), a rare genetic disorder. Read the article in the December 2014/January 2015 issue of Neurology Now, featuring FOX meteorologist...[aan.com]
  • 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]

Prognosis

  • 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]
  • Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling.[elsevier.es]

Etiology

  • 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]

Epidemiology

  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • Jorde LB et. al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6.[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]
  • The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]

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