PT  - JOURNAL ARTICLE
AU  - M Nitschke
AU  - D Steinberger
AU  - I Heberlein
AU  - V Otto
AU  - U Müller
AU  - P Vieregge
TI  - Dopa responsive dystonia with Turner’s syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene
AID  - 10.1136/jnnp.64.6.806
DP  - 1998 Jun 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 806--808
VI  - 64
IP  - 6
4099  - http://jnnp.bmj.com/content/64/6/806.short
4100  - http://jnnp.bmj.com/content/64/6/806.full
SO  - J Neurol Neurosurg Psychiatry1998 Jun 01; 64
AB  - A 26 year old woman with dopa responsive dystonia and cytogenetically confirmed Turner’s syndrome had bilateral globus pallidus hypointensity on brain MRI. Among the living members of a five generation pedigree the patient’s mother and the mother’s sister also had dopa responsive dystonia; a maternal grandfather had senile parkinsonism, his niece isolated postural tremor. No other family member had Turner’s syndrome. A new missense mutation in exon I of the gene of GTP-cyclohydrolase I was found in the three family members with dopa responsive dystonia. With levodopa substitution the patients with dopa responsive dystonia improved clinically as well as in quantitative tests on hand tapping, verbal and performance IQ, concept formation, and set shifting abilities.