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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.
GLOSSARY: ARHSP = autosomal recessive hereditary spastic paraplegia; HSP = hereditary spastic paraplegia; TCC = thin corpus callosum.
Footnotes
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C.Paisan-Ruiz{at}ion.ucl.ac.uk
Supplemental data at www.neurology.org
Editorial, page 1375
e-Pub ahead of print on March 12, 2008, at www.neurology.org.
Supported by the Intramural Program of the National Institute on Aging, NIH, Department of Health and Human Services. H.H. holds a Medical Research Council clinician scientist fellowship.
Disclosure: The authors report no conflicts of interest.
Received June 18, 2007. Accepted in final form September 14, 2007.
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