Amyotrophic lateral sclerosis with spinocerebellar ataxia (Q86921): Difference between revisions
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Expansões intermediárias da repetição CAG na ataxina 2 (ATXN2) foram identificadas como um fator de risco genético para o desenvolvimento de ELA esporádica. Expansões completas de ATXN2 estão associadas à ataxia espinocerebelar tipo 2 (SCA2). Além disso, um único relatório documentou a coocorrência de SCA2 e ELA em membros separados de uma família, ambos com expansões ATXN2 completas. | |||
| description / en | description / en | ||
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. | |||
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.
| 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. |
