Document Detail

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
MedLine Citation:
PMID:  20187889     Owner:  NLM     Status:  MEDLINE    
Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced after many minutes of exercise, and was never present at rest, or on initiation of movements. In addition, family members suffered restless legs syndrome (RLS), depression, and adult-onset Parkinsonism. The index case had low cerebrospinal fluid neurotransmitters and pterins. The PED and RLS stopped on initiation of L-Dopa therapy. Both live family members were found to have a nonsense mutation (p.E84X) in exon 1 of the GTP-cyclohydrolase 1 (GCH-1) gene. We propose that GCH-1 mutations should be considered a genetic cause of familial PED, especially if additional clinical features of monoaminergic deficiency are present in affected individuals.
Russell C Dale; Anna Melchers; Victor S C Fung; Padraic Grattan-Smith; Henry Houlden; John Earl
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-02-19
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  52     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-06-23     Completed Date:  2010-07-12     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  583-6     Citation Subset:  IM    
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MeSH Terms
Age of Onset
Antiparkinson Agents / therapeutic use
Codon, Nonsense
Depressive Disorder / cerebrospinal fluid,  drug therapy,  genetics
Dystonia / cerebrospinal fluid,  drug therapy,  genetics*
GTP Cyclohydrolase / deficiency*,  genetics*
Levodopa / therapeutic use
Parkinsonian Disorders / cerebrospinal fluid,  drug therapy,  genetics
Restless Legs Syndrome / cerebrospinal fluid,  drug therapy,  genetics
Grant Support
G0802760//Medical Research Council
Reg. No./Substance:
0/Antiparkinson Agents; 0/Codon, Nonsense; 46627O600J/Levodopa; EC Cyclohydrolase

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