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Article

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Parkinsonism & related disorders - 1 Aug 2016

Hanagasi Hasmet A, Giri Anamika, Kartal Ece, Guven Gamze, Bilgiç Başar, Hauser Ann-Kathrin, Emre Murat, Heutink Peter, Basak Nazlı, Gasser Thomas, Simón-Sánchez Javier, Lohmann Ebba

Abstract excerpt

OBJECTIVE: DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS). METHODS: The family consisted of 12 members including 10 offsprings of whom three...

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Source

Identifiers

PMID: 26972524
DOI: 10.1016/j.parkreldis.2016.03.001

Genes

PARK7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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