Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23

European Journal of Human Genetics

Volumn 8, Issue 12, 2000, Pages 986-990

  Bomont, Pascale ^a   Watanabe, Mitsunory ^b   Gershoni Barush, Ruth ^c   Shizuka, Masami ^b   Tanaka, Makoto ^b   Sugano, Jinpei ^d   Guiraud Chaumeil, Christophe ^a   Koenig, Michel ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b GUNMA UNIVERSITY   (Japan)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d Social Insurance Gunma Chuo General Hospital   (Japan)

Author keywords

foetoprotein; Ataxia; Cerebellar; Homozygosity; Immunoglobulin; Mapping; Neuropathy; recessive

Indexed keywords

ALPHA FETOPROTEIN; CREATINE KINASE; GAMMA GLOBIN;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CEREBELLUM ATROPHY; CHROMOSOME 6P; CHROMOSOME 9Q; CLINICAL ARTICLE; CONSANGUINITY; CREATINE KINASE BLOOD LEVEL; FRIEDREICH ATAXIA; GENE LOCATION; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HEARING IMPAIRMENT; HEREDITARY ATAXIA; HOMOZYGOSITY; HUMAN; ISRAEL; JAPAN; MOLECULAR CLONING; MOLECULAR GENETICS; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RELATIVE; SCORING SYSTEM; SIBLING; SPINOCEREBELLAR DEGENERATION;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 9; CONSANGUINITY; DEAFNESS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MYOCLONIC CEREBELLAR DYSSYNERGIA; OPTIC ATROPHY; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; SPINOCEREBELLAR ATAXIAS;

ATAXIA;

EID: 0034513418     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200586     Document Type: Article

References (22)

1. Freidreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
2. Clinical and genetic abnormalities in patients with Friedreich's ataxia
3. Ataxia-telangiectasia
4. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
5. Autosomal recessive spastic ataxia of Charlevoix-Saguenay
6. Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease
7. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
8. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
9. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
10. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
11. Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
12. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein
13. A comprehensive genetic map of the human genome based on 5,264 microsatellites
14. Localization of Freidreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
15. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
16. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
17. Estimated contribution of known ataxia genes in ataxia patients undergoing DNA testing
18. Recent advances in the molecular pathogenesis of Friedreich ataxia
19. Ataxia-telangiectasia: Is ATM a sensor of oxidative damage and stress?
20. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1
21. A physical map of 30,000 human genes