Unusual phenotypic expression of the DYT1 mutation.
Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.
Gatto
Emilia Mabel
EM
Parkinson's Disease and Abnormal Movements Program, Institute of Neurosciences, University Hospital, University of Buenos Aires, Juramento 1155, 3 degrees A, C1428DMK, Buenos Aires, Argentina. emilagatto@gibertel.com.ar
Pardal
Manuel María Fernandez
MM
Micheli
Federico Eduardo
FE
D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018832:Molecular Chaperones; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human