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Brain Advance Access originally published online on October 26, 2005
Brain 2006 129(1):235-242; 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

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

Claudia Cagnoli1,*, Caterina Mariotti2,*, Franco Taroni2, Marco Seri4, Alessandro Brussino1, Chiara Michielotto1, Marina Grisoli3, Daniela Di Bella2, Nicola Migone1, Cinzia Gellera2, Stefano Di Donato2,* and Alfredo Brusco1,*

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

Correspondence to: Stefano Di Donato, MD, UO Biochimica e Genetica, Istituto Nazionale Neurologico Carlo Besta, via Celoria, 11-20133 Milano, Italy E-mail: didonato{at}istituto-besta.it

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.

Key Words: spinocerebellar ataxia; SCA; oculomotor function; autosomal dominant cerebellar ataxia; linkage analysis

Abbreviations: ADCA = autosomal dominant cerebellar ataxia; DRPLA = dentato-rubral-pallido-luysian atrophy; LOD = log of the odds; SCA = spinocerebellar ataxia; SCA1 = spinocerebellar ataxia type 1

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Received July 22, 2005. Revised August 29, 2005. Accepted August 31, 2005.

* These authors contributed equally to this work


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