Journal article icon

Journal article

A novel family with an unusual early-onset generalized dystonia.

Abstract:

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 haplo...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1002/mds.20267

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Expand authors...
Journal:
Movement disorders : official journal of the Movement Disorder Society
Volume:
20
Issue:
1
Pages:
81-86
Publication date:
2005-01-01
DOI:
EISSN:
1531-8257
ISSN:
0885-3185
Source identifiers:
346118
Language:
English
Keywords:
Pubs id:
pubs:346118
UUID:
uuid:b6d083b6-c975-4501-b318-d69b338f23d1
Local pid:
pubs:346118
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP