Phenotypic characterization of DYT13 primary torsion dystonia.
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male-to-male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic-like dystonic movements of the neck or shoulders. DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1-PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD.
Istituto di Neurologia, Università Cattolica, Rome, Italy. aerreb@mclink.it
Anna Rita
AR
Bentivoglio
Tamara
T
Ialongo
M Fiorella
MF
Contarino
Enza M
EM
Valente
Alberto
A
Albanese
D000203:Activities of Daily Living / Q000145:classification; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004185:Disability Evaluation; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D051548:Histone Acetyltransferases; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics*; D035362:Transcription Factor TFIID / Q000235:genetics*
D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID; D051548:Histone Acetyltransferases; C069001:TATA-binding protein associated factor 250 kDa