Document Detail


Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
MedLine Citation:
PMID:  11436124     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
SBMA (spinal and bulbar muscular atrophy), also called Kennedy disease, is an X-chromosomal recessive adult-onset neurodegenerative disorder caused by death of the spinal and bulbar motor neurones and dorsal root ganglia. Patients may also show signs of partial androgen insensitivity. SBMA is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene on the X-chromosome. Our previous study suggested that all the Nordic patients with SBMA originated from an ancient Nordic founder mutation, but the new intragenic SNP marker ARd12 revealed that the Danish patients derive their disease chromosome from another ancestor. In search of relationships between patients from different countries, we haplotyped altogether 123 SBMA families from different parts of the world for two intragenic markers and 16 microsatellites spanning 25 cM around the AR gene. The fact that different SBMA founder haplotypes were found in patients from around the world implies that the CAG repeat expansion mutation has not been a unique event. No expansion-prone haplotype could be detected. Trinucleotide diseases often show correlation between the repeat length and the severity and earlier onset of the disease. The longer the repeat, the more severe the symptoms are and the onset of the disease is earlier. A negative correlation between the CAG repeat length and the age of onset was found in the 95 SBMA patients with defined ages at onset.
Authors:
A Lund; B Udd; V Juvonen; P M Andersen; K Cederquist; M Davis; C Gellera; C Kölmel; L O Ronnevi; A D Sperfeld; S A Sörensen; L Tranebjaerg; L Van Maldergem; M Watanabe; M Weber; L Yeung; M L Savontaus
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  9     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-07-03     Completed Date:  2001-10-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  431-6     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, University of Turku, Finland. anniemi@utu.fi
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MeSH Terms
Descriptor/Qualifier:
Exons
Founder Effect*
Genes, Recessive
Genetic Markers
Haplotypes
Heterozygote
Humans
Microsatellite Repeats
Muscular Atrophy, Spinal / epidemiology*,  genetics*
Trinucleotide Repeat Expansion
X Chromosome
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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