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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

From the Molecular Genetics Unit (C.P.-R., A.S.), National Institute on Aging, NIH, Bethesda, MD; Department of Neurology (O.D., A.Y.), Faculty of Medicine, Mersin University, Mersin, Turkey; and Department of Molecular Neuroscience (H.H.), Institute of Neurology, Queen Square, London, UK.

Address correspondence and reprint requests to Dr. C. Paisan-Ruiz, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824

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.

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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