Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

Neurology

Volumn 61, Issue 11, 2003, Pages 1614-1616

  Saiki, S ^a   Sakai, K ^a   Kitagawa, Y ^a   Saiki, M ^a   Kataoka, S ^a   Hirose, G ^a  

^a KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; NUCLEOTIDE;

ACANTHOCYTOSIS; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHAC GENE; CHOREA; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; RNA ANALYSIS; RNA SEQUENCE; SEQUENCE ANALYSIS; SIBLING;

EID: 0345168857     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000096172.26601.02     Document Type: Article

References (10)

1. Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis. Brain 1991;114:13-49.
2. Rampoldi L, Dobson-Stone C, Rubio JP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001;28:118-119.
3. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001;28:120-121.
4. Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 2002;10:773-781.
5. Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP. A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 1996;39:672-675.
6. Walker RH, Morgello S, Davidoff-Feldman B, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 2002;58:1031-1037.
7. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
8. Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP. Mutations in RGR, encoding a light-sensitive rhodopsin homologue, in patients with retinitis pigmentosa. Nat Genet 1999;23:393-394.
9. Talerico M, Berget SM. Effects of 5′ splice site mutations on splicing of the preceding intron. Mol Cell Biol 1990;10:6299-6305.
10. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. ClC-1 chloride channel mutations in myotonia congenital: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998;7:1753-1760.