Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 347, Issue 1-2, Pages 368-371Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2014.10.017
Keywords
Hereditary spastic paraplegia; Multiplex ligation dependent probe amplification; SPG3A; SPG4; Micro-mutation; Rearrangement mutation
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Funding
- National Natural Science Foundation of China [81371266, 30973221]
- Program for Zhejiang Leading Team of Science and Technology Innovation [2012R10049-04]
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Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. At least 52 different gene loci have been identified so far, involving autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and maternal inheritance. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes are responsible for about 50% of pure AD-HSP patients. In this study, SPAST and ATL1 mutations were screened in 36 unrelated HSP patients (17 probands with AD family history and 19 sporadic HSP patients) by direct sequencing and multiplex ligation dependent probe amplification (MLPA). We identified 3 micromutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene. Four of five micromutations were novel and del. ex. 13-15 in SPAST was not reported previously. In this cohort of Chinese patients with spastic paraplegia, SPAST and ATL1 mutations were found in 5 of 17 HSP probands with AD family history and in 2 of 19 sporadic HSP patients. Four novel micro-mutations and one novel exon deletion were identified, which broadened the mutational spectrum of the genes. (C) 2014 Elsevier B.V. All rights reserved.
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