Amyotrophic lateral sclerosis with spinocerebellar ataxia (Q86921)
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Intermediate expansions of the CAG repeat in Ataxin 2 (ATXN2) have been identified as a genetic risk factor for the development of sporadic ALS. Full expansions of ATXN2 are associated with spinocerebellar ataxia type 2 (SCA2). In addition, a single report has documented the co-occurrence of SCA2 and ALS in separate members of a family, both carrying full ATXN2 expansions.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_84805458 |
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| English | Amyotrophic lateral sclerosis with spinocerebellar ataxia |
Intermediate expansions of the CAG repeat in Ataxin 2 (ATXN2) have been identified as a genetic risk factor for the development of sporadic ALS. Full expansions of ATXN2 are associated with spinocerebellar ataxia type 2 (SCA2). In addition, a single report has documented the co-occurrence of SCA2 and ALS in separate members of a family, both carrying full ATXN2 expansions. |
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CID11:ID_84805458
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dki-india-ID_84805458
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