Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

CONCLUSIONS: A new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia. This important and treatable neurotransmitter disorder must be considered in patients with a complex movement disorder with diurnal fluctuations with or without intellectual impairment. Patients with these symptoms should undergo levodopa trial, cerebrospinal fluid investigations, and genetic analyses.
PMID: 24588500 [PubMed - in process]

Source: Acta Neurologica Scandinavica. Supplementum - March 9, 2014 Category: Neurology Authors: Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M Tags: Acta Neurol Scand Suppl Source Type: research