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Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.


ABSTRACT: We describe a sporadic case of atypical parkinsonism-dystonia of subacute onset at the age of 16 years in a male from a consanguineous family. He showed marked orofacial dystonia, levodopa-induced dyskinesia, and a stereotyped bilateral eye-pressing movement disorder. We combined Sanger sequencing of candidate genes, homozygosity mapping, and whole-exome sequencing. A homozygous mutation was identified disrupting a splice site in exon 5 of the DJ1 (PARK7) gene. Clinical details and a video are provided. DJ1 mutations are a rare cause of atypical complex parkinsonism. Exome sequencing is efficacious in identifying the causal gene variant.

SUBMITTER: Bras JM 

PROVIDER: S-EPMC6182985 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.

Bras Jose M JM   Guerreiro Rita J RJ   Teo James T H JTH   Darwent Lee L   Vaughan Jenny J   Molloy Sophie S   Hardy John J   Schneider Susanne A SA  

Movement disorders clinical practice 20140410 1


We describe a sporadic case of atypical parkinsonism-dystonia of subacute onset at the age of 16 years in a male from a consanguineous family. He showed marked orofacial dystonia, levodopa-induced dyskinesia, and a stereotyped bilateral eye-pressing movement disorder. We combined Sanger sequencing of candidate genes, homozygosity mapping, and whole-exome sequencing. A homozygous mutation was identified disrupting a splice site in exon 5 of the DJ1 (PARK7) gene. Clinical details and a video are p  ...[more]

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