DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype

Dystonia-parkinsonism refers to the conditions where the severity of dystonia usually equates that of parkinsonism. The main genetic conditions presenting with dystonia parkinsonism are disorders of dopamine biosynthesis (GCH1, TH, SPR mutations) deficit of neurotransmitter transporters (SLC6A3, SLC18A2) dystonia-parkinsonism syndromes associated with PRKRA, ATP1A3, TAF1 and TUBB4A mutations, and disorders of metal metabolism (i.e., copper, iron, and manganese) [1]. DNAJC6 gene mutation has been reported to cause autosomal recessive levodopa responsive parkinsonism with motor fluctuations and dyskinesia which is slowly progressive, rapidly progressive parkinsonism in combination with intellectual disability, cognitive decline, upper motor neuron signs, dystonia, and epilepsy and levodopa responsive dystonia-parkinsonism phenotype [2, 3].
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research