Catalog

Amyotrophic lateral sclerosis with spinocerebellar ataxia

No MMS code

Link to WHO Definition

Amyotrophic lateral sclerosis with spinocerebellar ataxia – http://id.who.int/icd/entity/84805458

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.