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

• Published in: Parkinsonism & related disorders Vol. 29; pp. 117 - 120
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.08.2016
• Subjects: Adult; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - complications; Amyotrophic Lateral Sclerosis - genetics; Computational Biology; Consanguinity; DJ1; DNA Mutational Analysis; Family Health; Female; Humans; Male; Mental Status Schedule; Mutation - genetics; Neurology; PARK7; Parkinson Disease - complications; Parkinson Disease - genetics; Parkinson's disease; Protein Deglycase DJ-1 - genetics; Severity of Illness Index; Turkey; Amyotrophic lateral sclerosis; DJ1; Parkinson's disease; PARK7

Abstract 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 si...