Document Detail

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.
MedLine Citation:
PMID:  9736780     Owner:  NLM     Status:  MEDLINE    
Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used to demonstrate expanded CAG repeats in some FSP families that map to SPG4. We analyzed 20 FSP families, including four for which there is evidence for linkage to SPG4, and found that in most cases the repeat expansion detected by RED is due to non-pathogenic expansions of the chromosome 18q21.1 SEF2-1 or 17q21.3 ERDA1 locus. Polymorphic expansions at SEF2-1 and ERDA1 appear frequent and may confound RED studies in the search for genes causing disorders demonstrating anticipation. In six FSP families, however, CAG repeat expansion was detected in a subset of affected and at-risk individuals that did not result from expansion of the SEF2-1 and ERDA1 loci. Overall, 11 of 37 (30%) of the FSP patients with a CAG/CTG repeat expansion are unaccounted for by the SEF2-1 and ERDA1 loci, compared with two of 23 (9%) of the unaffected at-risk individuals and none of 19 controls. In the majority of cases these novel expansions were shorter than those previously reported.
K F Benson; M Horwitz; J Wolff; K Friend; E Thompson; S White; R I Richards; W H Raskind; T D Bird
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  7     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1998-12-01     Completed Date:  1998-12-01     Revised Date:  2009-10-27    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1779-86     Citation Subset:  IM    
Markey Molecular Medicine Center, Division of Medical Genetics and 6Division of General Internal Medicine, Department of Medicine, School of Medicine, University of Washington, 1705 NE Pacific Street, Box 357720, Seattle, WA 98195-7720, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Blotting, Western
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 18
DNA-Binding Proteins / genetics,  immunology,  metabolism
Genes, Dominant*
Linkage (Genetics)
Spastic Paraplegia, Hereditary / genetics*
TATA-Box Binding Protein
TCF Transcription Factors
Trans-Activators / genetics
Transcription Factors / genetics,  immunology,  metabolism
Trinucleotide Repeat Expansion*
Grant Support
Reg. No./Substance:
0/DNA-Binding Proteins; 0/TATA-Box Binding Protein; 0/TCF Transcription Factors; 0/TCF4 protein, human; 0/Tcf7L2 transcription factor; 0/Trans-Activators; 0/Transcription Factors

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

Previous Document:  Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isola...
Next Document:  Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: i...