Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3

Brain

Volumn 129, Issue 6, 2006, Pages 1456-1462

  Klebe, Stephan ^a   Azzedine, Hamid ^a   Durr, Alexandra ^a   Bastien, Patrick ^b   Bouslam, Naima ^a,c   Elleuch, Nizar ^a   Forlani, Sylvie ^a   Charon, Celine ^c   Koenig, Michel ^e   Melki, Judith ^d   Brice, Alexis ^a   Stevanin, Giovanni ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Salpetriere Hospital ^*

^c INSERM   (France)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^e IBN SINA HOSPITAL   (Morocco)

Author keywords

Autosomal recessive spastic paraplegia; Chromosome 2q37.3; Linkage; SPG30

Indexed keywords

ALGERIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM ATROPHY; CHROMOSOME 2Q; COMPUTER ASSISTED TOMOGRAPHY; CZECH REPUBLIC; FRANCE; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY; SPASTIC PARAPLEGIA; SPASTICITY; TUNISIA; ADULT; CEREBELLAR ATAXIA; CHROMOSOME 2; CONSANGUINITY; FEMALE; GENETIC LINKAGE; GENETICS; GENOTYPE; MALE; NERVE CONDUCTION; NEUROPATHY; ONSET AGE; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE;

ADULT; AGE OF ONSET; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENOTYPE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; LOD SCORE; MALE; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33745107260     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl012     Document Type: Article

References (28)

1. Blumen SC, Bevan S, Abu-Mouch S, Negus D, Kahana M, Inzelberg R, et al. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 2003; 54: 796-803.
2. Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, et al. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 2005; 57: 567-71.
3. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
4. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53: 252-63.
5. De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998; 63: 135-9.
6. Durr A, Brice A. Clinical and genetic aspects of spinocerebellar degeneration. Curr Opin Neurol 2000; 13: 407-13.
7. Durr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996; 119: 1487-96.
8. Elleuch N, Depienne C, Benomar A, Ouvrard Hernandez AM, Ferrer X, Fontaine B, et al. SPG7 analysis in spastic paraplegia: rare causative mutations but frequent variations. Neurology 2006; In press.
9. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000; 25: 12-3.
10. Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002; 70: 1328-32.
11. Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 1998; 35: 89-93.
12. Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994; 3: 1263-7.
13. Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 2002; 59: 1905-9.
14. Hughes CA, Byrne PC, Webb S, McMonagle P, Patterson V, Hutchinson M, et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 2001; 56: 1230-3.
15. Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999; 53: 50-6.
16. McHale DP, Mitchell S, Bundey S, Moynihan L, Campbell DA, Woods CG, et al. A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet 1999; 64: 526-32.
17. Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol 2004; 56: 579-82.
18. Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 2002; 31: 347-8.
19. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003; 40: 81-6.
20. Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome 10. J Neurol 2006; In press.
21. Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003; 73: 1147-56.
22. Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol 2001; 14: 457-63.
23. Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am J Hum Genet 2000; 67: 504-9.
24. Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 2004; 127: 973-80.
25. Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, et al. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 2003; 61: 235-8.
26. Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, et al. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 2005; 42: 80-2.
27. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-5.
28. Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, et al. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet 2002; 39: 387-90.