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Parkinsonism & Related Disorders
Volume 15, Issue 9
, Pages 621-626
, 5 November 2009
Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis
References
- An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21:379–384
- . Molecular genetics of spinocerebellar ataxia type 8 (SCA8). RNA Biol. 2005;2:49–52
- . If it's not one thing, it's another. Nat Genet. 2006;38:743–744
- Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006;38:758–769
- . SCA8 BAC transgenic mice have a progressive and lethal neurological phenotype demonstrating pathogenicity of the CTG expansion. Am J Hum Genet. 2002;71:A176
- . The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. Curr Biol. 2004;14:302–308
- . The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum. 2005;4:2–6
- . Spinocerebellar ataxias: an update. Curr Opin Neurol. 2007;20:438–446
- . Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenet Genome Res. 2003;100:175–183
- High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet. 2000;66:830–840
- . Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. J Neurol Neurosurg Psychiatry. 2004;75:459–465
- Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings. Acta Neurol Scand. 2008;117:41–48
- An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet. 2000;66:819–829
- Long repeat tracts at SCA8 in major psychosis. Am J Med Genet. 2000;96:873–876
- Do CTG expansions at the SCA8 locus cause ataxia?. Ann Neurol. 2003;54:110–115
- Genetic and clinical analysis of spinocerebellar ataxia 8 repeat expansion in Yugoslavia. Clin Genet. 2002;62:321–324
- . SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet. 2000;9:2125–2130
- . Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7:150–158
- Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypes. Mov Disord. 2005;20:1405–1412
- . Sporadic SCA8 mutation resembling corticobasal degeneration. Parkinsonism Relat Disord. 2005;11:147–150
- . Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 2000;55:649–657
- . Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology. 2000;54:950–955
- Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol. 2000;48:354–361
- . A survey of spinocerebellar ataxia in South Brasil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol. 2001;248:870–876
- . Type 8 spinocerebellar ataxia. A report of a family. Rev Neurol. 2001;33:150–152
- Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. J Neurol. 2002;249:923–929
- . SCA8 in the Spanish population including one homozygous patient. Clin Genet. 2002;62:404–409
- SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet. 2003;72:704–709
- . Early onset of ataxia in a child with a pathogenic SCA8 allele. Pediatr Neurol. 2005;33:136–138
- . Distinguishing psychogenic and essential tremor. J Neurol Sci. 2007;263:94–99
- Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007;130:2484–2493
- . Secondary paroxysmal dyskinesias. Mov Disord. 2002;17:726–734
- . SCA8 repeat expansion coexists with SCA1–not only with SCA6. Am J Hum Genet. 2003;73:972–974
- . False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. Ann Neurol. 2005;57:462–463
- Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet. 2004;65:209–214
- . SCA8 repeat expansions in ataxia: a controversial association. Neurology. 2001;57:1310–1312
- Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004;75:3–16
- . Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord. 2007;22:127–130
- . Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet. 2000;24:214–215
- . The 'hot cross bun' sign in the patients with spinocerebellar ataxia. Eur J Neurol. 2009 Apr;16(4):513–516
- . White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. Clin Neurol Neurosurg. 2008;110(1):65–68
- Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology. 2006;67:1479–1481
- . Cognitive impairment in spinocerebellar ataxia type 8. J Neurol Sci. 2005;237:31–38
- Sca8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. Brain Res. 2008;1233:176–184
- . The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet. 2000;9:1543–1551
- . Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. J Neurosci. 2006;26:9975–9982
- . The Kelch-like protein 1 modulates P/Q-type calcium current density. Neuroscience. 2007;145:841–850
- . The cerebellum and migraine. Headache. 2007;47:820–833
☆ The review of this paper was entirely handled by the Co-Editor-in-Chief, Z.K. Wszolek.
PII: S1353-8020(09)00143-6
doi: 10.1016/j.parkreldis.2009.06.001
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Parkinsonism & Related Disorders
Volume 15, Issue 9
, Pages 621-626
, 5 November 2009
