Spinocerebellar Ataxia 1 (SCA1)

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Disease Ontology 12 DOID:0050954 OMIM® 57 164400 OMIM Phenotypic Series 57 PS164400 MeSH 44 D020754 ICD10 via Orphanet 33 G11.8

UMLS via Orphanet 72 C0752120 Orphanet 58 ORPHA98755 MedGen 41 C0752120 SNOMED-CT via HPO 68 102935005 129609000 130980003 221360009 230233000 23133003 246586009 246769000 250067008 263681008 271700006 288939007 289195008 29356006 302200001 32566006 349006 366575004 37280007 386806002 386807006 397790002 398151007 398152000 398432008 399317006 404686001 405946002 40739000 409622000 43378000 55533009 563001 56610005 67761004 74035001 76349003 76976005 77420001 8011004 82470000 86854008 95646004 more UMLS 71 C0752120 C2931903

OMIM® : ⁵⁷ The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004). Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (183090), and SCA3, or Machado-Joseph disease (109150), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (607640), caused by a CAG repeat expansion in the ATXN7 gene (607640) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (600224), SCA31 (117210), SCA6 (183086), and SCA11 (600432) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype. Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003). (164400) (Updated 05-Mar-2021)

MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 10, and has symptoms including abnormality of extrapyramidal motor function, dysdiadochokinesis and scanning speech. An important gene associated with Spinocerebellar Ataxia 1 is ATXN1 (Ataxin 1), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Lithium carbonate and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and dysarthria

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has material basis in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.

MedlinePlus Genetics : ⁴³ Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years.Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.

GARD : ²⁰ Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia 1: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1184

Clinical features from OMIM®:

164400 (Updated 05-Mar-2021)

Search NIH Clinical Center for Spinocerebellar Ataxia 1

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