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[Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2023

Rudenskaya G E, Petukhova M S, Zabnenkova V V, Cherevatova T B, Ryzhkova O P

Abstract excerpt

A familial case of a rare autosomal dominant Alzheimer's disease (AD), related to PSEN1 gene (AD3, OMIM 607822), differing from common multifactorial form by earlier onset and, in part of cases, by accompanying neurological signs, spastic paraparesis particularly, is presented. The first sign in a female proband and in her son was paraparesis manifested at the age of 29 and 21 years, respectively. Cognitive...

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Identifiers

PMID: 37994898
DOI: 10.17116/jnevro2023123111120

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