A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia

Chinese Medical Journal

Volumn 121, Issue 5, 2008, Pages 430-434

  Zhao, Guo Hua ^a,b   Hu, Zheng Mao ^c   Shen, Lu ^a   Jiang, Hong ^a   Ren, Zhi Jun ^a   Liu, Xiao Min ^a   Xia, Kun ^c   Guo, Peng ^a   Pan, Qian ^c   Tang, Bei Sha ^c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c National Laboratory of Medical Genetics of China   (China)

Author keywords

Autosomal dominant; Genome wide scan; Hereditary spastic paraplegia; LOD score

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CHROMOSOME 11P; CHROMOSOME MAP; CLINICAL ARTICLE; DNA ISOLATION; FAMILY STUDY; FEMALE; GENETIC RECOMBINATION; HAPLOTYPE MAP; HUMAN; LINKAGE ANALYSIS; MALE; MONGOLIA; SPASTIC PARAPLEGIA; ADULT; CHROMOSOME 11; GENETIC LINKAGE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; LOD SCORE; MALE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 42449142983     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200803010-00012     Document Type: Article

References (18)

1. McDermott CJ, White K, Bushby K, Shaw P. Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 2000; 69: 150-160.
2. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993; 5: 163-167.
3. Hazan J, Fontaine B, Bruyn RPM, Lamy C, van Deutekom JC, Rime CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994; 3: 1569-1573.
4. Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995; 56: 188-192.
5. Hedera P, Rainier S, Alvarado D, Zhao X, Willianson J, Otterud B, et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet 1999; 64: 563-569.
6. Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, et al. Genetic mapping to 10q23:3-q24.2, in a large Italian pedigree, of a new syndrome, showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999; 64: 586-593.
7. Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet 1999; 65: 757-763.
8. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000; 66: 728-732.
9. Fontaine B, Dovoine CS, Dürr A, Patemotte C, Feki I, Weissenbach J, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000; 66: 702-707.
10. Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, et al. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 2001; 69: 209-215.
11. Valente EM, Brancati F, Caputo V, Bertini E, patrono C, Costanti D, et al. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann Neurol 2002; 51: 681-685.
12. Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bemardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann Neurol 2005; 58: 423-429.
13. Zuchner S, Kail ME, Nance MA, Gaskell PC, Svenson IK, Marchuk DA, et al. A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics 2006; 7: 127-129.
14. Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 2006; 79: 351-357.
15. Harding AE. Hereditary "pure" spastic paraplegia. A clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981: 44: 871-883.
16. Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, et al. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol 2004; 61: 49-55.
17. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage, analysis in humans. Proc Natl Acad Sci U S A 1984; 81: 3443-3446.
18. Rochat-Steiner V, Becker K, Micheau O, Schneider P, Burns K, Tschopp J. FIST/HIPK3: a Fas/FADD-interacting serine/threonine kinase that induces FADD phosphorylation and inhibits fas-mediated Jun NH (2)-terminal kinase activation. J Exp Med 2000; 192: 1165-1174.