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]

(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. [journals.plos.org]

At first presentation, approximately 60% were found to have limb ataxia, 80% showed some pyramidal involvement and 50% had both pyramidal and cerebellar involvement. [acnr.co.uk]

Patients with SPG3A were more likely to present at a younger age, with a mean age at symptom onset of 10.1 (SE 4.4) years ( p = 0.022) ( figure 3 ). [ng.neurology.org]

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

• Sudden Infant Death Syndrome

  ] P56539 pleiotropic VAR_043696 p.Leu79Arg Disease - - Long QT syndrome 9 (LQT9) [MIM: 611818 ] Sudden infant death syndrome (SIDS) [MIM: 272120 ] P56539 pleiotropic VAR_016208 p.Ala93Thr Disease rs28936686 0.0002 Rippling muscle disease (RMD) [MIM: 606072 [sbg.bio.ic.ac.uk]

• Mitral Valve Prolapse

  Although mitral valve prolapse was described in the original cases of ARSACS, 2 this finding has not been replicated in subsequent studies of families outside Québec. [acnr.co.uk]

• Macula

  […] technique and its uses in neurological disease have previously been reviewed in this journal. 34 In ARSACS, OCT shows thickening of the RNFL in all sectors around the disc, with average peripapillary thicknesses of between 119 and 220μm. 22,29-33 In the macula [acnr.co.uk]

• Lower Extremity Spasticity

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, corticospinal tract signs, variable hypertonic urinary disturbances, and mild reduction of lower extremity vibration sense and proprioception. [ng.neurology.org]

• Hyperreflexia

  On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. [hyoka.ofc.kyushu-u.ac.jp]

  Standardized clinical assessments were performed and included demographic information, family history, developmental history, and HSP core symptoms (age at onset, lower extremity weakness and spasticity, hyperreflexia, extensor plantar responses, and [ng.neurology.org]

• Dysmetria

  Eye movements show horizontal bidirectional nystagmus, saccadic alterations of smooth ocular pursuit and saccadic dysmetria. 18 Supranuclear gaze palsy has been described in one case. 17 In the Québecois cases, by the age of 10 more than 90% showed both [acnr.co.uk]

• Babinski Sign

  Main inclusion criteria for HA were cerebellar gait and/or limb ataxia, and for HSP, spasticity in the lower limbs, brisk reflexes and positive Babinski sign [ 11, 12 ]. [journals.plos.org]

It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders. [books.google.de]

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]

Monitoring of pharmacological treatment of patients with juvenile myoclonus epilepsy. Solberg, Marianne & Koht, Jeanette (2017). Oculogyric crises. Tremor and Other Hyperkinetic Movements. [med.uio.no]

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

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]

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. Journal of Neurology, Neurosurgery and Psychiatry. [med.uio.no]

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]

[…] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis [ng.neurology.org]

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

Prevalence and etiology of epilepsy in a Norwegian county - A population based study. Epilepsia. ISSN 0013-9580. 56 (5), s 699- 706. doi: 10.1111/epi.12972 Tesson, Christelle; Koht, Jeanette & Stevanin, Giovanni (2015). [med.uio.no]

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]

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]

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]

CONCLUSION: This is the first comprehensive genetic epidemiological study of patients with HSP in Hungary. Next generation sequencing improved the yield of genetic diagnostics in this disease group even when the phenotype was atypical. [hspersunite.org.au]

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]

In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]

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]

Fukumaki., Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia., Psychiatric Res., 167：88-96., 2009.04, Based on the hypothesis that a glutamatergic dysfunction is involved in the pathophysiology [hyoka.ofc.kyushu-u.ac.jp]

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]

A correct molecular diagnosis is important for affected individuals, providing certainty, preventing unnecessary diagnostic tests and giving access to relevant supportive therapies and genetic counseling. [journals.plos.org]