Abstract | BACKGROUND: OBJECTIVE: To study the clinical features and identify the SPG11 gene mutations in Chinese patients with HSP-TCC. METHODS: Three kindreds with an autosomal recessive HSP-TCC and 5 cases with sporadic HSP-TCC in Chinese Hans were recruited. Detailed clinical history, neurological examination, MRI, electromyography, Mini Mental State Examination (MMSE), Spastic Paraplegia Rating Scale ( SPRS) were presented. DNA samples of the 8 families were collected and mutation analysis of SPG11 gene was carried out by direct DNA sequencing. RESULTS: Except for one patient whose age at onset was 3 years old, 10 patients manifested a relatively similar combination of adolescence-onset cognitive decline and spastic paraparesis with TCC on brain MRI. We identified 10 novel and one known mutations in our 8 HSP-TCC families, which were two nonsense mutations (c.5977C>T/p.Q1993X, c.4668T>A/p.Y1556X), three small deletions (c.6898_6899delCT/p.L2300AfsX2338, c.3719_3720delTA/p.I1240VfsX263, c.733_734delAT/p.M245VfsX246), four small insertions (c.7088_7089insATTA/p.Y2363X, c.2163_2164insT/p.I722YfsX731, c.7101_7102insT/p.K2368X, c.6790_6791insC/p.L2264PfsX2339), one deletion/insertion (c.654_655delinsG/p.S218RfsX219), and one splice mutation (c.7151+4_7151+7delAGTA/p.K2384fsX2386). Each family has a different mutation and all the mutations are predicted to cause early protein truncation. CONCLUSION: This study widens the mutation spectrum of the SPG11 gene and the mutations in the SPG11 gene are also the major causative gene for HSP-TCC in the Chinese Hans. Screening of the whole gene is recommended in clinical practice.
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Authors | Shu-sheng Liao, Lu Shen, Juan Du, Guo-huan Zhao, Xiao-yi Wang, Yi Yang, Zi-quan Xiao, Yi Yuan, Hong Jiang, Nan Li, He-dong Sun, Jun-ling Wang, Chun-yu Wang, Ya-fang Zhou, Xiao-yun Mo, Kun Xia, Bei-sha Tang |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 275
Issue 1-2
Pg. 92-9
(Dec 15 2008)
ISSN: 0022-510X [Print] Netherlands |
PMID | 18835492
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Proteins
- SPG11 protein, human
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Topics |
- Adult
- Agenesis of Corpus Callosum
- Asian People
(ethnology)
- DNA Mutational Analysis
(methods)
- Family Health
- Female
- Follow-Up Studies
- Humans
- Magnetic Resonance Imaging
(methods)
- Male
- Mental Status Schedule
- Mutation
(genetics)
- Proteins
(genetics)
- Spastic Paraplegia, Hereditary
(genetics, pathology)
- Young Adult
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