Clinical feature and molecular genetics of hereditary spinocerebellar ataxia

Clinical Neurology

Volumn 47, Issue 11, 2007, Pages 795-800

  Sasaki, Hidenao ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Dynamic mutation; Gain of function mutation; Loss of function mutation; RNA splicing; Spinocerebellar ataxia

Indexed keywords

MESSENGER RNA; PROTEIN; PROTEIN SCA 10; PROTEIN SCA 8; UNCLASSIFIED DRUG;

CLINICAL FEATURE; CONFERENCE PAPER; DISEASE SEVERITY; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; PHENOTYPE; SPINOCEREBELLAR DEGENERATION; TANDEM REPEAT; X CHROMOSOME LINKED DISORDER;

HUMANS; MUTATION; RNA SPLICING; SPINOCEREBELLAR ATAXIAS;

EID: 38549085756     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (11)

1. Tsuji S, Onodera O, Goto J, et al: Sporadic ataxias in Japan - a population-based epidemiological study. Cerebellum (in press)
2. Hagerman PJ, Hagerman RJ: The fragile-X permutation: a maturing perspective. Am J Hum Genet 2004; 74: 805-816
3. Ikeda Y, Dick KA, Weatherspoon MR, et al: Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006; 38: 184-190
4. Arrasate M, Mitra S, Schweitzer ES, et al: Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431: 805-810
5. Ranum LPW, Cooper TA: RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006; 29: 259-277
6. Liquori CL, Ricker K, Moseley ML, et al: Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293: 864-867
7. Moseley ML, Zu T, Ikeda Y, et al: Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 2006; 38: 758-769
8. Lu CS, Chou YH, Weng YH, et al: Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese. J Neural Transm Suppl 2006; 70: 235-240
9. Klockgether T, Schols L, Abele M, et al: Age related axonal neuropathy in spinocerebellar ataxia type 3 / Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 1999; 66: 222-224
10. Dawson DM, Feudo P, Zubick HH, et al: Electrooculographic findings in Machado-Joseph disease. Neurology 1982; 32: 1271-1276
11. Chen DH, Cimino PJ, Ranum LP, et al: The clinical and genetic spectrum of spinocerebellar aataxia 14. Neurolgy 2005; 64: 1258-1260