Spinocerebellar ataxia type 12

Elizabeth O'Hearn, Susan E. Holmes, Russell Louis Margolis

Research output: Contribution to journalArticle

Abstract

SCA12 is a late-onset, autosomal dominant, slowly progressive disorder. Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia. In the index SCA12 kindred, which resides in North America and is of German ancestry, parkinsonism, anxiety, depression, and cognitive dysfunction are not uncommon. SCA12 is linked to a CAG repeat expansion mutation in exon 7 of PPP2R2B, a gene that encodes Bβ, a regulatory subunit of protein phosphatase 2A (PP2A). CAG repeats number 7-28 in normal individuals and 55-78 in SCA12 patients. The mechanism by which this mutation leads to SCA12 has not been determined. The CAG expansion in PPP2R2B has promoter function in vitro. CAG length correlates with increased Bβ expression. There is no evidence that this CAG expansion results in polyglutamine production. In addition to the North. American SCA12 kindred, multiple SCA12 families have been found in Northern India that are not related to the index SCA12 kindred. SCA12 has been reported, rarely, in Singapore and China. Action tremor, anxiety, and depression in SCA12 have responded to usual treatments for these disorders. SCA12 may be considered in patients who present with action tremor and later develop signs of cerebellar and cortical dysfunction.

Original languageEnglish (US)
Pages (from-to)535-547
Number of pages13
JournalHandbook of Clinical Neurology
Volume103
DOIs
StatePublished - 2011

Fingerprint

Tremor
Anxiety
Depression
Spinocerebellar Ataxias
Cerebellar Diseases
Protein Phosphatase 2
Abnormal Reflexes
Mutation
Singapore
Parkinsonian Disorders
Ataxia
North America
India
Exons
China
Genes
Spinocerebellar Ataxia 12
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Spinocerebellar ataxia type 12. / O'Hearn, Elizabeth; Holmes, Susan E.; Margolis, Russell Louis.

In: Handbook of Clinical Neurology, Vol. 103, 2011, p. 535-547.

Research output: Contribution to journalArticle

O'Hearn, Elizabeth ; Holmes, Susan E. ; Margolis, Russell Louis. / Spinocerebellar ataxia type 12. In: Handbook of Clinical Neurology. 2011 ; Vol. 103. pp. 535-547.
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