Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Alessandro Brussino, Claudio Graziano, Dario Giobbe, Marina Ferrone, Elisa Dragone, Carlo Arduino, Raffaele Lodi, Caterina Tonon, Anna Gabellini, Rita Rinaldi, Sara Miccoli, Enrico Grosso, Maria Cristina Bellati, Laura Orsi, Nicola Migone, Alfredo Brusco

Research output: Contribution to journalArticlepeer-review

Abstract

SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of ≥51 CAGs in the 5′ region of the brain-specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.

Original languageEnglish
Pages (from-to)1269-1273
Number of pages5
JournalMovement Disorders
Volume25
Issue number9
DOIs
Publication statusPublished - Jul 15 2010

Keywords

  • CAG repeat
  • PPP2R2B gene
  • SCA12
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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