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MCID: SPN304
MIFTS: 38
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Spinocerebellar Ataxia 8
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 8:
Characteristics:Orphanet epidemiological data:59
spinocerebellar ataxia type 8
Inheritance: Autosomal dominant; Age of onset: Adult; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset between 18 and 65 years sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 and atxn8-opposite strand normal alleles contain 15 to 50 repeats pathogenic alleles contain 71 to 1,300 repeats HPO:32GeneReviews:24
Penetrance
In the large family (mn-a) originally reported to have sca8 (lod 6.8 at ϴ:0.00), affected individuals have longer ctg·cag repeat tracts (mean: 117) than the 21 asymptomatic individuals with a ctg·cag repeat expansion (mean: 92; p<10-6). these results indicate that repeat length plays a role in disease penetrance [koob et al 1999, day et al 2000]. further analysis of other families showed that the pathogenic range can vary among families and that a positive test for an atxn8os/atxn8 expansion, regardless of the repeat size, cannot be used to predict whether an asymptomatic individual will develop ataxia [ranum et al 1999, moseley et al 2000c, worth et al 2000, ikeda et al 2004]...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases
ICD10:
34
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NIH Rare Diseases
:
53
Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).
MalaCards based summary : Spinocerebellar Ataxia 8, also known as spinocerebellar ataxia type 8, is related to autosomal dominant cerebellar ataxia and mitochondrial dna depletion syndrome 7, and has symptoms including muscle spasticity, tremor and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 8 is ATXN8OS (ATXN8 Opposite Strand LncRNA). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and depressivity UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 8: 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons.
Description from OMIM:
608768
GeneReviews:
NBK1268
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:608768Human phenotypes related to Spinocerebellar Ataxia 8:59 32 (show all 33)
UMLS symptoms related to Spinocerebellar Ataxia 8:muscle spasticity, tremor, abnormal pyramidal signs |
Interventional clinical trials:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 8:41
Eye,
Spinal Cord,
Cerebellum,
Testes,
Pons
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Articles related to Spinocerebellar Ataxia 8:
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Genes related to Spinocerebellar Ataxia 8 (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia 8:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 8.
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