A novel family with an unusual early-onset generalized dystonia.
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism.
Fabbrini
Giovanni
G
Department of Neurological Sciences, University La Sapienza, Rome, Italy.
Brancati
Francesco
F
Vacca
Laura
L
Valente
Enza Maria
EM
Nemeth
Andrea
A
Meesaq
Angela
A
Sykes
Nuala
N
Dallapiccola
Bruno
B
Berardelli
Alfredo
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods