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Article

Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.

BMC research notes - 29 Aug 2013

Annan Mariam, Beaufils Émilie, Viola Ursule-Catherine, Vourc'h Patrick, Hommet Caroline, Mondon Karl

Abstract excerpt

BACKGROUND: Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 gene was recently identified as being responsible for over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration, in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration, and in addition, has been found to be a rare genetic cause of...

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Identifiers

PMID: 23987827
DOI: 10.1186/1756-0500-6-343
PMCID: PMC3765963

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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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