SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Neurology
; 70(16 Pt 2): 1384-9, 2008 Apr 15.
Article
in En
| MEDLINE
| ID: mdl-18337587
ABSTRACT
BACKGROUND:
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases.METHODS:
We present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum.RESULTS:
We identified seven mutations, including deletions, insertions, and nonsense mutations, which were all predicted to lead to premature truncation of the protein.CONCLUSION:
We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
/
Spastic Paraplegia, Hereditary
/
Proteins
/
Genes, Recessive
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neurology
Year:
2008
Document type:
Article
Affiliation country:
United States