Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis

Annals of Neurology

Volumn 58, Issue 5, 2005, Pages 800-803

  Kress, Julia A ^a   Kühnlein, Peter ^b   Winter, Pia ^a   Ludolph, Albert C ^b   Kassubek, Jan ^b   Müller, Ulrich ^a   Sperfeld, Anne Dorte ^b  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN ALS2; RAB PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALS2 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; DISEASE COURSE; ELECTROMYOGRAM; EVOKED RESPONSE; EXON; GENE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MUSCLE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PSEUDOBULBAR PALSY; QUADRIPLEGIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARESIS; TURKEY (REPUBLIC);

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FOLLOW-UP STUDIES; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MUTATION;

EID: 27644488582     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20665     Document Type: Article

References (13)

1. Yang Y, Hentati A, Deng HX, 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;29:160-165.
2. Eymard-Pierre E, Lesca G, Dollet S, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002;71:518-527.
3. Shaw PJ. Genetic inroads in familial ALS. Nat Genet 2001;29:103-104.
4. Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001;29:166-173.
5. Hentati A, Bejaoui K, Pericak-Vance MA, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994;7:425-428.
6. Hentati A, Ouahchi K, Pericak-Vance MA, et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 1998;2:55-60.
7. Hand CK, Devon RS, Gros-Louis F, et al. Mutation screening of the ALS2 gene in sporadic and familial amyothrophic lateral sclerosis. Arch Neurol 2003;60:1768-1771.
8. Otomo A, Hadano S, Okada T, et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 2003;12:1671-1687.
9. Topp JD, Gray NW, Gerard RD, et al. Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J Biol Chem 2004;279:24612-24632.
10. Kunita R, Otomo A, Mizumura H, et al. Homooligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. J Biol Chem 2004;279:38626-38635.
11. Kanekura K, Hashimoto Y, Kita Y, et al. A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by alsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneural cell death. J Biol Chem 2005;280:4532-4543.
12. Ben Hamida B, Hentati F, Ben Hamida C. Hereditary motor system diseases. Brain 1990;113:347-363.
13. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1-3.