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Article

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Neurogenetics - 1 Feb 2011

Santoro Lucio, Breedveld Guido J, Manganelli Fiore, Iodice Rosa, Pisciotta Chiara, Nolano Maria, Punzo Francesca, Quarantelli Mario, Pappatà Sabina, Di Fonzo Alessio, Oostra Ben A, Bonifati Vincenzo

Abstract excerpt

Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance. However, the associated genotypes and phenotypes are poorly characterized due to the small number of patients...

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Identifiers

PMID: 20853184
DOI: 10.1007/s10048-010-0259-0
PMCID: PMC3029807

Genes

FBXO7

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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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