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A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Hasmet A. Hanagasi ,
Anamika Giri ,
Ece Kartal ,
Gamze Guven ,
Başar Bilgiç ,
Ann-Kathrin Hauser ,
Murat Emre ,
Peter Heutink ,
Nazlı Basak ,
Thomas Gasser ,
Javier Simón-Sánchez ,
Ebba Lohmann
August 2016
August 2016
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Abstract
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).