Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?

June
24th

Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?

Neurology. 2013 Jun 14.

Autosomal dominantly inherited mutations in the GTP cyclohydrolase 1 (GCH1) gene are associated with dopamine-responsive dystonia (DRD), also known as DYT5. Rare atypical presentations have been described, including adulthood Parkinson disease (PD) with in vivo evidence of nigrostriatal degeneration.

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http://www.ncbi.nlm.nih.gov/pubmed/23771491