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Brain Advance Access published online on October 26, 2005
Brain, doi:10.1093/brain/awh651
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© The Author (2005). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received July 22, 2005
Revised August 29, 2005
Accepted August 31, 2005

Article

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2

Claudia Cagnoli 1 *, Caterina Mariotti 2 *, Franco Taroni 2, Marco Seri 3, Alessandro Brussino 1, Chiara Michielotto 1, Marina Grisoli 4, Daniela Di Bella 2, Nicola Migone 1, Cinzia Gellera 2, Stefano Di Donato 2* *, and Alfredo Brusco 1 *

1 Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy
2 UO Biochimica e Genetica, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy
3 UO Genetica Medica, Università degli Studi di Bologna, Bologna, Italy
4 UO Neuroradiologia, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy

* To whom correspondence should be addressed.
Stefano Di Donato, E-mail: didonato{at}istituto-besta.it


  Abstract

We describe a four-generation Italian family with a novel form of juvenile-onset, slowly progressive, autosomal dominant cerebellar ataxia. Eleven affected family members have been evaluated. The mean age at onset was 19.5 years with no evidence of anticipation. The first symptoms were invariably unbalanced standing and mild gait incoordination. Gaze-evoked nystagmus was prominent at onset, while patients with longer disease duration developed slow saccades, ophthalmoparesis and, often, ptosis. Deep tendon reflexes in lower limbs were increased in 80% of the cases. Genetic analysis excluded the presence of pathological repeat expansions in spinocerebellar ataxia (SCA) types 1-3, 6-8, 10, 12 and 17, and DRPLA genes. Linkage exclusion tests showed no evidence of association with other known SCA loci. A genome-wide screen analysis identified linkage with chromosome 18 markers. A maximum two-point limit of determination score of 4.20 was found for marker D18S53. Haplotype analysis refined a critical region of 7.9 Mb between markers D18S1418 and D18S1104. This new SCA locus on 18p11.22-q11.2 has been designated SCA28. Candidate genes within the critical interval are currently screened for mutations.

Keywords: spinocerebellar ataxia; SCA; oculomotor function; autosomal dominant cerebellar ataxia; linkage analysis.
*These authors contributed equally to this work
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