A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family

Chinese Medical Journal

Volumn 120, Issue 9, 2007, Pages 834-837

  Li, Xun Hua ^a   Song, Chun ^b   Chen, Su Qin ^c   Zhou, Yan ^d   Gou, Hui ^c   Zhou, Chun Long ^e   Yang, Zhi Yun ^a   Liang, Yin Xing ^a   Wang, Yi Ming ^c  

^a SUN YAT SEN UNIVERSITY   (China)

^b HARBIN MEDICAL UNIVERSITY   (China)

^c SUN YAT SEN UNIVERSITY   (China)

^d CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^e Hangzhou Genomics Institute   (China)

Author keywords

Atlastin; Chinese; Hereditary spastic paraplegia; Mutation; SPG3A

Indexed keywords

COMPLEMENTARY DNA; GUANOSINE TRIPHOSPHATASE; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PROTEIN SPG3A; PROTEIN SPG4; PROTEIN SPG6; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FEMALE; FOOT; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; SENSORIMOTOR FUNCTION;

EID: 34248665321     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200705010-00018     Document Type: Article

References (9)

1. Abel A, Fonknechten N, Hofer A, Durr A, Cruaud C, Voit T, et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 2004; 5: 239-243.
2. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981; 44: 871-883.
3. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome l4q. Nat Genet 1993; 5:163-167.
4. Chen S, Zhou Y, Li X, Labu, Huang S, Huang W, et al. Genetic and structural analyses suggest that a novel SPG3A mutation causes severe phenotypes of hereditary spastic paraplegia. Chin Sci Bull 2006; 51:2038-2040.
5. Chen S, Song C, Guo H, Xu P, Huang W, Zhou Y, et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutation 2005; 25:135-141.
6. Zhao GH, Tang BS, Chen X, Luo W, Li SY, Liu XM. The study of clinic, electrophysiology and MRI in type IV hereditary spastic paraplegia. J Clin Neurol 2004; 17284-285.
7. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29: 326-331.
8. Scarano V, Mancini P, Criscuolo C, Michele GD, Rinaldi C, Tucci T, et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 2005; 1768:1-3.
9. Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004; 61:1867-1872.