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GENATLAS PHENOTYPE
last update : 08-12-2015
Symbol SCA12
Location 5q32
HGNC id 10551
Name spinocerebellar ataxia 12
Corresponding gene PPP2R2B
Main clinical features
  • characterized by an onset between 8 and 55 years, with upper extremity tremor appearing most frequently in the fourth decade, gait ataxia, dysmetria, dysdiadokinesis, hyperreflexia, abnormal eye movements and dementia in older age
  • late-onset neurodegenerative disorder characterized by diffuse cerebral and cerebellar atrophy
  • associated with both cortical and cerebellar atrophy on MRI or CT scans
    • Genetic determination autosomal dominant
    Function/system disorder eye
    neurology
    Type disease
    Gene product
    Name protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   unknown repeat triplet (CAG) repeat amplification (55-78) in the 5'utr region of PPP2R2B, non coding
    Remark(s)