An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred [2]

Annals of Neurology

Volumn 53, Issue 1, 2003, Pages 144-145

  Gros Louis, François ^a   Meijer, Inge A ^a   Hand, Collette K ^a   Dubé, Marie Pierre ^a   MacGregor, Daune L ^b   Seni, Marie Hélène ^c   Devon, Rebecca S ^d   Hayden, Michael R ^d   Andermann, Frederick ^e   Andermann, Eva ^c,e   Rouleau, Guy A ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d Centre for Molecular Medicine and Therapeutics   (Canada)

^e MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALS2 GENE; CLINICAL FEATURE; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; NERVE DEGENERATION; PAKISTAN; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CHILD; FAMILY HEALTH; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; PAKISTAN; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0037234133     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10422     Document Type: Letter

References (5)

1. 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.
2. 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.
3. 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.
4. Fontaine B, Davoine CS, Durr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000;66:702-707.
5. Esters H, Alexandrov K, Iakovenko A, et al. Vps9, Rabex-5 and DSS4: proteins with weak but distinct nucleotide-exchange activities for Rab proteins. J Mol Biol 2001;310:141-156.