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Article

Initial neuropsychological impairments in patients with the E46K mutation of the α-synuclein gene (PARK 1).

Journal of the neurological sciences - 15 Nov 2011

Somme Johanne H, Gomez-Esteban Juan C, Molano Ana, Tijero Beatriz, Lezcano Elena, Zarranz Juan J

Abstract excerpt

INTRODUCTION: In 2004 we described the mutation E46K of the α-Synuclein (SNCA). These patients show Parkinson's disease with early cognitive impairment, sleep disorders and autonomic dysfunction. OBJECTIVE: The main objective is to identify early neuropsychological impairments in patients with the E46K mutation. METHODS: This is a longitudinal neuropsychological study of 4 of the 5 surviving patients with E46K...

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Source

Identifiers

PMID: 21880335
DOI: 10.1016/j.jns.2011.07.047

Genes

CLOCK
SNCA

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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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