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Article

Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation.

Cerebellum (London, England) - 1 Oct 2020

Seliverstov Yury, Kanivets Ilya, Illarioshkin Sergey

Abstract excerpt

PSEN1 gene is considered to be the most common gene, which is responsible for the development of an autosomal dominant Alzheimer disease with early onset and sometimes broad phenotype. We present a patient with a spinocerebellar ataxia (SCA)-like phenotype who was found to carry an M233V mutation. General and neurological exam was carried out. Brain MRI as well as genetic testing for SCAs 1, 2, 3, 6, and 17 were...

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PMID: 32594361
DOI: 10.1007/s12311-020-01161-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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