Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1

American Journal of Human Genetics

Volumn 59, Issue 2, 1996, Pages 392-399

  Flanigan, K ^a   Gardner, K ^a   Alderson, K ^b   Galster, B ^a   Otterud, B ^a   Leppert, M F ^a   Kaplan, C ^a   Ptacek L J ^a,c  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; FAMILY STUDY; FEMALE; FRIEDREICH ATAXIA; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY ATAXIA; HUMAN; MALE; MARKER GENE; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY;

EID: 0029792130     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Auburger G, Orozco Diaz G, Ferreira Capote R, Gispert Sanchez S, Paradoa Perez M, Estrasa del Cueto M, Garcia Men-eses M, et al (1990) Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 46:1163-1177
2. Banfi S, Servadio A, Chung M, Kwiatkowski TJ, McCall AE, Duvick LA, Shen Y, et al (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7:513-520
3. Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, et al (1995) Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 333:1313-1318
4. Gouw L, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, et al (1995) Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 10:89-93