Amyotrophic lateral sclerosis with spinocerebellar ataxia (Q86921): Difference between revisions

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Revision as of 12:29, 15 August 2026

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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ID_84805458
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    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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