Chronic pain was present with similar prevalence among SCA10 patients and healthy controls but was more frequent in MJD. [ncbi.nlm.nih.gov]

The present study focused on elucidating a molecular pathogenesis of this unique inherited disease. [utmb-ir.tdl.org]

In 2004, Teive et al. described 28 patients out of 5 Brazilian families who presented a homogeneous phenotype of pure cerebellar ataxia, but without epilepsy. [scielo.br]

• Abnormal Eye Movement

  In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination. SCA7 SCA7 only comprises 2 to 5 percent of autosomal dominant spinocerebellar ataxias. [verywell.com]

  Egan RA, Camicioli R, Popovich BW: A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. Eur Neurol 2000; 44: 189-190. [scabase.eu]

• Dysmetria

  On examination, both siblings displayed ocular dysmetria, dysdiadokinesia, impaired finger-to-nose exam, gait ataxia and hyperreflexia. [annalsofian.org]

  There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders. [patient.info]

  On examination, she had horizontal and vertical nystagmus, fragmented ocular pursuit, ocular dysmetria, scanning speech, mild limb and gait ataxia with a widened base, slow speed, and inability to perform tandem walking. [ng.neurology.org]

  Babinski sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Distal sensory impairment Decreased sensation in extremities 0002936 Hyporeflexia Decreased reflex response Decreased reflexes [ more ] 0001265 Impaired smooth pursuit 0007772 Limb dysmetria [rarediseases.info.nih.gov]

  Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367-378. 64. Timmann D, Daum I. [demneuropsy.com.br]

• Hyperreflexia

  The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment. [ncbi.nlm.nih.gov]

  In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. [orpha.net]

  Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by {1:Guo et al., 2014}). [diseaseinfosearch.org]

  On examination, both siblings displayed ocular dysmetria, dysdiadokinesia, impaired finger-to-nose exam, gait ataxia and hyperreflexia. [annalsofian.org]

Nevertheless, it must be noted that in such a co-occurrence, motor symptoms can often be misjudged in context of a psychiatric illness or attributed to neuroleptic side effects, thus delaying neurological workup and diagnosis. [annalsofian.org]

In spite of these comparisons, we were able to identify NMS with significant functional impact in patients with SCA10, indicating the need for their systematic screening aiming at optimal treatment and improvement in quality of life. [ncbi.nlm.nih.gov]

Rehabilitative treatment All participants received the usual pharmacological treatment (Appendix 1). [omicsonline.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

BioBlast has received FDA Fast Track status and Orphan Drug status for their treatment. [en.wikipedia.org]

Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age. [orpha.net]

Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]

The prognosis is bleak, with a gradual progression to disability and death within 10-20 years. Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26. [gpnotebook.co.uk]

Prognosis - Spinocerebellar ataxia 25 Not supplied. Treatment - Spinocerebellar ataxia 25 Not supplied. Resources - Spinocerebellar ataxia 25 Not supplied. [checkorphan.org]

Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. [orpha.net]

Etiology Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. Prognosis Prognosis is good. SCA19 does not impact life expectancy to any major extent, and some patients live to over 80 years of age. [rarediseases.info.nih.gov]

This association supports the possible involvement of striatum rather than cerebellum in the etiology of psychiatric symptoms. [annalsofian.org]

Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. 2 Department of Neurological Intractable Disease Research, Kagawa University School of Medicine, Kagawa, Japan. 3 Department of Epidemiology [ncbi.nlm.nih.gov]

Relevant External Links for ATXN10 Genetic Association Database (GAD) ATXN10 Human Genome Epidemiology (HuGE) Navigator ATXN10 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATXN10 No data available for Genatlas for ATXN10 Gene Ataxin [genecards.org]

Summary Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. [orpha.net]

Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]

In our current study, we were able to define SCA10 as a toxic RNA disease, and presented one of the possible molecular and electrophysiological mechanisms of SCA10 pathophysiology. [utmb-ir.tdl.org]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 RNA toxicity and foci formation in microsatellite expansion diseases. [myobase.org]

Cerebellar ataxia: pathophysiology and rehabilitation. Clin Rehabil. 2011;25:195-216. Velázquez L, García R, Santos F, Paneque H, Medina H, Hechavarría P. Las ataxias hereditarias en Cuba. [medigraphic.com]

"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. ^ "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]

Marsden J, Harris C (2011) Cerebellar ataxia: pathophysiology and rehabilitation. Clin Rehabil 25: 195-216. [omicsonline.org]

Prevention - Spinocerebellar ataxia 25 Not supplied. Diagnosis - Spinocerebellar ataxia 25 The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Spinocerebellar ataxia 25. [checkorphan.org]

Proteins mediating transfer of information – hormones, cytokines, receptors Locomotive Proteins that are responsible for movement – myosin, actin … Transport Proteins that transport various substances – haemoglobin, transferrin, … Defensive Proteins that prevent [slideshare.net]

Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ]. Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes. [patient.info]

Tof1 is a fork-stabilizing protein, which in a complex with Csm3 and Mrc1 proteins prevents fork dissociation when it encounters DNA lesions or other stall sites ( 30 ). [pnas.org]

[…] complement deposition on host cells M protein Cell wall of strep, binds factor h to prevent opsonization and destruction by alternative complement pathway. [studystack.com]