Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
Baltimore, United States. In Mov Disord, Nov 2015
OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment.
Wnt pathway antagonists, SFRP1, SFRP2, SOX17, and PPP2R2B, are methylated in gliomas and SFRP1 methylation predicts shorter survival.
Poznań, Poland. In J Appl Genet, Oct 2015
The methylation of SFRP1, SFRP2, PPP2R2B, DKK1, SOX17, and DACH1 was analyzed in 64 glioma samples using methylation-specific polymerase chain reaction (MSP).
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
New York City, United States. In Parkinsonism Relat Disord, Aug 2015
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
Transcriptome profiling of bovine inner cell mass and trophectoderm derived from in vivo generated blastocysts.
Eşfahān, Iran. In Bmc Dev Biol, 2014
Moreover, a great majority of genes that were found to be misregulated following in vitro culture of bovine embryos were known genes involved in epigenetic regulation of pluripotency and cell differentiation including DNMT1, GADD45, CARM1, ELF5 HDAC8, CCNB1, KDM6A, PRDM9, CDX2, ARID3A, IL6, GADD45A, FGFR2, PPP2R2B, and SMARCA2.
Spinocerebellar ataxia type 12.
Baltimore, United States. In Handb Clin Neurol, 2011
This study suggested that PPP2R2B CAG expansion mutation might lead increase induction of Spinocerebellar ataxia type 12.
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
Spinocerebellar Ataxia Type 15
Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: The diagnosis of SCA15 should be considered in individuals in whom the diagnoses of SCA5, SCA6, SCA8, SCA11, SCA12, SCA14, and SCA27 have been excluded by molecular genetic testing (if available) and who fulfill the clinical diagnostic criteria for SCA15.
RNA-mediated neuromuscular disorders.
Minneapolis, United States. In Annu Rev Neurosci, 2005
This review discusses RNA pathogenesis in DM1 and DM2 and evidence that similar mechanisms may play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and Huntington's disease-like 2 (HDL2).
Spinocerebellar Ataxia Type 12
Seattle, United States. In Unknown Journal, 2004
DIAGNOSIS/TESTING: PPP2R2B is the only gene in which mutation is known to cause SCA12.