Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.
Khan
Naheed L
NL
Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London, UK.
Wood
Nicholas W
NW
Bhatia
Kailash P
KP
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D018450:Disease Progression; D004422:Dystonia Musculorum Deformans / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007492:Iran / Q000208:ethnology; D007585:Jews / Q000208:ethnology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009483:Neuropsychological Tests; D010375:Pedigree
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human