Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

Neurogenetics

Volumn 5, Issue 4, 2004, Pages 239-243

  Abel, Annette ^a   Fonknechten, Nuria ^b   Hofer, Anne ^a   Dürr, Alexandra ^c   Cruaud, Corinne ^b   Voit, Thomas ^d   Weissenbach, Jean ^b   Brice, Alexis ^c   Klimpe, Sven ^e   Auburger, Georg ^a   Hazan, Jamilé ^b,f  

^a GOETHE UNIVERSITY   (Germany)

^b Genoscope   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Hereditary spastic paraplegia; Novel mutations; SPG3A

Indexed keywords

ALTASTIN; GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; FRANCE; GENE MAPPING; GENE MUTATION; GENOTYPE; GERMANY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; CHILD; EXONS; FAMILY HEALTH; FEMALE; FRANCE; GENES, DOMINANT; GERMANY; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 19944433320     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0191-2     Document Type: Article

References (17)

1. Fink JK (2003) Advances in the hereditary spastic paraplegias. Exp Neurol 184 [Suppl 1]:S106-S110
2. Reid E (2003) Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 40:81-86
3. Behan WM, Maia M (1974) Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37:8-20
4. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296-303
5. Hazan J, Lamy C, Melki J, Munnich A, Recondo J de, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5:163-167
6. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326-331
7. Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C (2003) Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem 278:49063-49071
8. Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Ardito B, Lastilla M, Tedeschi G, Quattrone A (2002) Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol 51:794-795
9. Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A (2003) Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. Neurology 61:580-581
10. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J (2004) Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 23:98
11. Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM. (2002) SPG3A: an additional family carrying a new atlastin mutation. Neurology 59:2002-2005
12. Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G (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. Paternotte C, Rudnicki D, Fizames C, Davoine CS, Mavel D, Durr A, Samson D, Marquette C, Muselet D, Vega-Czarny N, Drouot N, Voit T, Fontaine B, Gyapay G, Auburger G, Weissenbach J, Hazan J (1998) Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 8:1216-1227
14. Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A (2002) A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol 249:1413-1416
15. Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH (2003) SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci 216:43-45
16. Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A (2004) Atlastin1 mutations are frequent in young onset autosomal dominant spastic paraplegia. Arch Neurol (in press)
17. Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Boentsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9:637-644