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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
Author(s) -
Brussino Alessandro,
Graziano Claudio,
Giobbe Dario,
Ferrone Marina,
Dragone Elisa,
Arduino Carlo,
Lodi Raffaele,
To Caterina,
Gabellini Anna,
Rinaldi Rita,
Miccoli Sara,
Grosso Enrico,
Bellati Maria Cristina,
Orsi Laura,
Migone Nicola,
Brusco Alfredo
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22835
Subject(s) - dysmetria , ataxia , spinocerebellar ataxia , penetrance , hyperreflexia , haplotype , genetics , allele , medicine , phenotype , biology , gene , psychiatry , surgery
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. © 2010 Movement Disorder Society