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Article

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2014

Ricciardi Lucia, Petrucci Simona, Guidubaldi Arianna, Ialongo Tamara, Serra Laura, Ferraris Alessandro, Spanò Barbara, Bozzali Marco, Valente Enza Maria, Bentivoglio Anna Rita

Abstract excerpt

BACKGROUND: Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism. METHODS: We evaluated five affected PINK1 homozygous and 14 heterozygous mutation carriers from two large Italian families over a 12-year follow-up period. Motor, nonmotor, cognitive, psychiatric, and behavioral profiles were systematically assessed. Four homozygotes and eight heterozygotes...

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Source

Identifiers

PMID: 25164310
DOI: 10.1002/mds.25994

Genes

PINK1

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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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