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]

2017/65/5/1141/214102 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]

• Anemia

  (MPS II), N-acetyl-alpha-glucosaminidase (MPS IIIB), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA), Beta-galactosidase (MPS IVB), Arylsulfatase B (MPS VI), Beta-glucuronidase (MPS VII), Alpha-mannosidase (Alpha-mannosidase deficiency) PANEL DE ANEMIA [sequence.pe]

  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]

  血液疾患 hsa03460 Fanconi anemia pathway (FANCA) FANCA [HSA: 2175 ] [KO: K10888 ] (FANCB) FANCB [HSA: 2187 ] [KO: K10889 ] (FANCC) FANCC [HSA: 2176 ] [KO: K10890 ] (FANCD1) BRCA2 [HSA: 675 ] [KO: K08775 ] (FANCD2) FANCD2 [HSA: 2177 ] [KO: K10891 ] (FANCE) [kegg.jp]

• 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]

  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]

• Spastic Paralysis

  Reid Published 2014 in Journal of Neurology DOI: 10.1007/s00415-014-7598-y The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. [pdfs.semanticscholar.org]

  Arena syndrome 0 *Spastic Paraplegia, Hereditary *Mental Retardation, X-Linked. Hereditary spastic paralysis, infantile onset ascending 0 *Spastic Paraplegia, Hereditary. [reference.md]

  Lesca G, Eymard‐Pierre E and Santorelli FM (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60(4): 674–682. [els.net]

  Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD® exclusive variant numbers (++) ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR 20 AMPD2 102771 pontocerebellar hypoplasia 9 AR 7 AP4B1 607245 [centogene.com]

  Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 ; 60 : 674 –82 Marti-Fabregas J, Pujol J. [ajnr.org]

• Tremor

  He had ophthalmoplegia on both lateral gaze with mild upgaze restriction, increased tone in both lower limbs, ankle clonus, extensor plantar reflexes bilaterally, ataxic gait, and intention tremor. [neurologyindia.com]

  Study of a family with progressive ataxia, tremor and severe distal amyotrophy. Can J Neurol Sci. 1980 ; 7 : 345 – 9. 21. Duquette, A, Roddier, K, McNabb-Baltar, J, Gosselin, I, St-Denis, A, Dicaire, MJ, et al. [cambridge.org]

  Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

  […] in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases J Med Genet, 43 (3), 259-65 DOI 10.1136/jmg.2005.035311, PubMed 16055926 Dietrichs E, Tallaksen CM (2004) [Genetics in movement disorders--dystonia, tremor [ous-research.no]

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]

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]

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]

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]