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]

Available from: Sir, A 61-year old gentleman with a history of ataxic gait for the last 40 years presented with further worsening of his gait in the last 4–5 years. He reported multiple falls due to poor balance. [neurologyindia.com]

In Preliminary Data, we present the discovery of a gene for autosomal recessive spastic paraplegia. Co-Investigator, Dr. [grantome.com]

Results: Patients differ in several categories depending on the type of mutation present. [jnnp.bmj.com]

Therefore, we present non-adjusted prevalence rates in order to increase comparability between studies. [karger.com]

• Muscle Spasm

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [malacards.org]

• Polyneuropathy

  Related phenotypes are spasticity and polyneuropathy Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ARL6IP1 gene on chromosome 16p12. [malacards.org]

  Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec. Hum Genet. 1993 ; 91 : 223 – 7. 56. Battistella, P, Drigo, P, Laverda, A, Casara, G, De Martin, P, Condini, A, et al. [cambridge.org]

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]

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]

Greater understanding of HSP's pathophysiology will provide insights into possible therapy for this paralyzing disorder and hopefully into the molecular basis and ultimately treatments for other degenerative neurologic disorders including amyotrophic [grantome.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.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]

雑誌 J Neurol Neurosurg Psychiatry 83:6-14 (2012) DOI: 10.1136/jnnp-2011-300952 文献 PMID: 19917815 著者 Reilly MM, Shy ME タイトル Diagnosis and new treatments in genetic neuropathies. [genome.jp]

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]

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

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]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.org]

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

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993 ; 10 : 17 – 25. 27. Hara, K, Onodera, O, Endo, M, Kondo, H, Shiota, H, Miki, K, et al. [cambridge.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]

Greater understanding of HSP's pathophysiology will provide insights into possible therapy for this paralyzing disorder and hopefully into the molecular basis and ultimately treatments for other degenerative neurologic disorders including amyotrophic [grantome.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]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.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]

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]

Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. [karger.com]

Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031. Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A. [hih-tuebingen.de]