Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS).

Background: DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism.

Methods: The family consisted of 12 members including 10 offsprings of whom three were affected. All family members underwent detailed clinical examination. DNA samples from the index case, his unaffected sister, and his parents were subjected to whole genome sequencing analysis.

Results: The index case had progressive asymmetrical parkinsonism, depression and developed signs of ALS within 4 years. His two affected sisters had young-onset asymmetrical tremor-dominant parkinsonism with signs of ALS. A new homozygous p.Q45X mutation in exon 3 in DJ1 was found in all three patients. Their unaffected parents and one clinically healthy sibling were found to be heterozygous for this mutation.

Conclusions: This is the second report of DJ1 mutations associated with parkinsonism and ALS. This is relevant for genetic counseling as well as for understanding the pathogenesis of the broad spectrum of parkinsonism-ALS disease complex.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-novel-homozygous-dj1-mutation-causes-parkinsonism-and-als-in-a-turkish-family/