Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon

Neurology

Volumn 66, Issue 7, 2006, Pages 1103-1104

  Ouyang, Y ^a   Takiyama, Y ^a   Sakoe, K ^a   Shimazaki, H ^a   Ogawa, T ^a   Nagano, S ^b   Yamamoto, Y ^b   Nakano, I ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SACSIN GENE; BLOOD; DYSARTHRIA; GENETICS; ISOLATION AND PURIFICATION; ONSET AGE;

DNA; HEAT SHOCK PROTEIN; SACS PROTEIN, HUMAN;

ADULT; AGE OF ONSET; ATAXIA; DNA; DYSARTHRIA; EXONS; FEMALE; GENOTYPE; HEAT-SHOCK PROTEINS; HUMANS;

EID: 33646080592     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000204300.94261.ea     Document Type: Article

References (9)

1. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5:61-69.
2. Engert JC, Bérubé P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-125.
3. Ogawa T, Takiyama Y, Sakoe K, et al. Identification of a SACS gene missense mutation in ARSACS. Neurology 2004;62:107-109.
4. Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I. A phenotype without spasticity in sacsin-related ataxia. Neurology 2005;64:2129-2131.
5. Hara K, Onodera O, Endo M, et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 2005;20:380-382.
6. Criscuolo C, Banfi S, Orio M, et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 2004;62:100-102.
7. El Euch-Fayache G, Lalani I, Amouri R, et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003;60:982-988.
8. Richter AM, Ozgul RK, Poisson VC, et al. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 2004;5:165-170.
9. Criscuolo C, Sacca F, De Michele G, et al. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 2005;20:1358-1361.