Clinical features and molecular genetics of autosomal recessive spinocerebellar degenerations

Clinical Neurology

Volumn 44, Issue 11, 2004, Pages 785-787

  Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

Aprataxin; Autosomal recessive inheritance; Early onset ataxia with ocular motor apraxia and hypoalbuminemia; Friedreich's ataxia; Spinocerebellar degeneration

Indexed keywords

APRATAXIN; APRAXIA; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM ATROPHY; CLINICAL FEATURE; CONFERENCE PAPER; DNA REPAIR; DNA STRAND BREAKAGE; FRIEDREICH ATAXIA; GENE; GENETIC ANALYSIS; HUMAN; HYPOALBUMINEMIA; JAPAN; MOLECULAR GENETICS; ONSET AGE; SPINOCEREBELLAR DEGENERATION;

HUMANS; JAPAN; SPINOCEREBELLAR DEGENERATIONS;

EID: 10944245758     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (6)

1. Date H, Onodera O, Tanaka H, et al: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001; 29: 184-188
2. Moreira MC, Barbot C, Tachi N, et al: The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001; 29: 189-193
3. Sano Y, Date H, Igarashi S, et al: Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol 2004; 55: 241-249
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5. Moreira MC, Klur S, Watanabe M, et al: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004; 36: 225-227
6. Takashima H, Boerkoel CF, John J, et al: Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002; 32: 267-272