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SCA1
MCID: SPN294
MIFTS: 53
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Spinocerebellar Ataxia 1 (SCA1)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 1:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; OMIM:56
Miscellaneous:
genetic anticipation onset in third or fourth decade paternal anticipation bias
Inheritance:
autosomal dominant HPO:31
spinocerebellar ataxia 1:
Inheritance autosomal dominant inheritance genetic anticipation with paternal anticipation bias Onset and clinical course adult onset GeneReviews:24
Penetrance Penetrance is considered to be greater than 95%, but is age dependent. onset after age 60 years has occasionally been reported [sasaki et al 1996, van de warrenburg et al 2004].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases Liver diseases Skin diseases Ear diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases |
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OMIM :
56
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)
MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 7, 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 Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and dysphagia 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. Genetics Home Reference : 25 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. NIH Rare Diseases : 52 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
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Human phenotypes related to Spinocerebellar Ataxia 1:58 31 (show top 50) (show all 66)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:164400UMLS symptoms related to Spinocerebellar Ataxia 1:abnormality of extrapyramidal motor function, dysdiadochokinesis, scanning speech, muscle spasticity, ataxia, truncal, abnormal pyramidal signs |
Drugs for Spinocerebellar Ataxia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:(show all 17)
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MalaCards organs/tissues related to Spinocerebellar Ataxia 1:40
Eye,
Cerebellum,
Spinal Cord,
Brain,
Testes,
Skeletal Muscle,
T Cells
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Articles related to Spinocerebellar Ataxia 1:(show top 50) (show all 618)
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Genes related to Spinocerebellar Ataxia 1 (2 elite genes):(show all 35) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia 1:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 1.
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Cellular components related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:
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