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    
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.
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
Related Documents :
10343094 - Chromosomal localization of zebrafish alui repeats by primed in situ (prins) labeling.
8872464 - Founder effect in spinal and bulbar muscular atrophy (sbma).
9709964 - Z-2 microsatellite allele is linked to increased expression of the aldose reductase gen...
25461454 - X chromosome inactivation: recent advances and a look forward.
8978024 - Evidence that the transcriptional regulators sin3 and rpd3, and a novel gene (sds3) wit...
24130694 - Thorough investigation of a canine autoinflammatory disease (aid) confirms one main ris...
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    
Department of Medical Genetics, University of Turku, Finland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Founder Effect*
Genes, Recessive
Genetic Markers
Microsatellite Repeats
Muscular Atrophy, Spinal / epidemiology*,  genetics*
Trinucleotide Repeat Expansion
X Chromosome
Reg. No./Substance:
0/Genetic Markers

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

Previous Document:  BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients.
Next Document:  Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in p...