A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

American Journal of Human Genetics

Volumn 65, Issue 3, 1999, Pages 757-763

  Reid, E ^a   Dearlove, A M ^b   Rhodes, M ^b   Rubinsztein, D C ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b Med Res Cncl Hum Nutr Research   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 12Q; CLINICAL ARTICLE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

EID: 0033362081     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302555     Document Type: Article

References (38)

1. Brownstein MJ, Carpten JD, Smith JR (1996) Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques 20:1004-1010, 1008-1010
2. Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A (1996) Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-2p24 in a large German family. Hum Genet 98:371-375
3. Cambi F, Tang X-M, Cordray MS, Fain PR, Keppen LD, Barker DF (1996) Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 46:1112-1117
4. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
5. De Jonghe P, Krols L, Michalik A, Hazan J, Smeyers G, Löfgren A, Weissenbach J, et al (1996) Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees. Eur J Hum Genet 4:260-266
6. De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, et al (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 63:135-139
7. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Dürr A, Brice A, Serdaru M, Rancurel G, Derouesné C, Lyon-Caen O, Agid Y, et al (1994) The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 44:1274-1277
9. Dürr A, Davoine C-S, Paternotte C, von Fellenberg J, Cogilnicean S, Coutinho P, Lamy C, et al (1996) Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 119:1487-1496
10. Fink JK, Heiman-Patterson T (1996) Hereditary spastic paraplegia: advances in genetic research. Neurology 46:1507-1514
11. Fink JK, Wu C-tB, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, et al (1995) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 56:188-192
12. Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, et al (1995) Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 56:183-187
13. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
14. Harding AE (1981) Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44:871-883
15. _ (1984) The hereditary ataxias and related disorders. Churchill Livingstone, Edinburgh
16. Haung S, Zhuyu, Li H, Labu, Baizhu, Lo WH, Fischer C, et al (1997) Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3. Hum Genet 100:620-623
17. Hazan J, Fontaine B, Bruyn RPM, Lamy C, van Deutekom JC, Rime CS, Dürr A, et al (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 3:1569-1573
18. Hazan J, Lamy C, Melki J, Munnich A, de Rocondo J, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14p. Nat Genet 5:163-167
19. Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, et al (1999) Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet 64:563-569
20. Heinzlef O, Paternotte C, Mahieux F, Prud'homme J-F, Dien J, Madigand M, Pouget J, et al (1998) Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 35:89-93
21. Hentati A, Pericak-Vance MA, Hung W-Y, Belal S, Laing N, Boustany R-M, Hentati F, et al (1994a) Linkage of "pure" autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3:1263-1267
22. Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, et al (1994b) Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 3:1867-1871
23. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the 1.1 gene. Nat Genet 7:402-407
24. Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP (1996) Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. J Neurol Sci 137:131-138
25. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multipoint linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
26. Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, et al (1998) Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study. J Neurol Neurosurg Psychiatry 64:61-66
27. Paternotte C, Rudnicki D, Fizames C, Davoine C-S, Mavel D, Dürr A, Samson D, et al (1998) Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 8:1216-1227
28. Polo JM, Calleja J, Combarros O, Berciano J (1993) Hereditary "pure" spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry 56:175-181
29. Reid E (1997) Syndrome of the month: pure hereditary spastic paraplegia. J Med Genet 34:499-503
30. Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC. Autosomal dominant spastic paraplegia: refined SPG8 locus and further genetic heterogeneity. Neurology (in press-a)
31. Reid E, Grayson C, Rogers MT, Rubinsztein DC. Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia: a clinical and molecular genetic study of 28 United Kingdom families. Brain (in press-b)
32. Saugier-Veber P, Munnich A, Bonneau D, Rozet J-M, Le Merrer M, Gil R, Boespflug-Tanguy O (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262
33. Schady W, Sheard A (1990) A quantitative study of sensory function in hereditary spastic paraplegia. Brain 113:709-720
34. Scott WK, Gaskel PC, Lennon F, Wolpert CM, Menold MM, Aylsworth AS, Warner C, et al (1997) Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics 1:95-102
35. Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, et al (1999) 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 64:586-593
36. Tedeschi G, Allocca S, Di Costano A, Carlomango S, Merla F, Petretta V, Toriello A, et al (1991) Multisystem involvement of the central nervous system in Strümpell's disease. J Neurol Sci 103:55-60
37. Webb S, Hutchinson M (1998) Cognitive impairment in families with pure autosomal dominant hereditary spastic paraparesis. Brain 121:923-929
38. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Marc S, et al (1992) A second-generation linkage map of the human genome. Nature 359:794-801