Document Detail


First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia.
MedLine Citation:
PMID:  16242937     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital. METHODS: We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype. RESULTS: Linkage was confirmed using markers ZNF261, DXS10017, and DXS10018. CONCLUSION: We present the first case of XDP or 'lubag' reported in an Australian hospital. It highlights the enlarging role of genetic testing in facilitating the diagnosis of dystonia in a clinical environment where a disease like XDP is rare, and where a corroborating family history may be unavailable.
Authors:
C Plummer; J Bradfield; A B Singleton; D Hernandez; A A Singleton; J O'sullivan
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-10-20
Journal Detail:
Title:  Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia     Volume:  12     ISSN:  0967-5868     ISO Abbreviation:  J Clin Neurosci     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-12-05     Completed Date:  2006-05-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433352     Medline TA:  J Clin Neurosci     Country:  Scotland    
Other Details:
Languages:  eng     Pagination:  945-6     Citation Subset:  IM    
Affiliation:
St Vincent's Hospital, Melbourne, Victoria, Australia. chrisplummer@ozemail.com.au
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MeSH Terms
Descriptor/Qualifier:
Adult
Australia
Dystonic Disorders / genetics*,  physiopathology
Genetic Diseases, X-Linked / genetics*,  physiopathology
Genetic Markers
Haplotypes
Humans
Linkage (Genetics)
Male
Microsatellite Repeats / genetics
Parkinsonian Disorders / genetics*,  physiopathology
Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/Genetic Markers

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