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NEUROLOGY 2003;61:1441-1443
© 2003 American Academy of Neurology
Brief Communications

Intergenerational instability and marked anticipation in SCA-17

F. Maltecca, MSc, A. Filla, MD, I. Castaldo, MSc, G. Coppola, MD, N.A. Fragassi, MD, M. Carella, PhD, A. Bruni, MD, S. Cocozza, MD, G. Casari, PhD, A. Servadio, PhD and G. De Michele, MD

From San Raffaele Scientific Institute (DIBIT) (F. Maltecca and Drs. Casari and Servadio), Milan; the Departments of Neurological Sciences (Drs. Filla, Coppola, Fragassi, and De Michele) and Molecular and Cellular Biology and Pathology and CEOS (I. Castaldo and Dr. Cocozza), Federico II University, Naples; Telethon Institute of Genetics and Medicine (TIGEM) (Dr. Carella), Naples; and Neurogenetic Center (Dr. Bruni), Lametia Terme, Italy. F. Maltecca and Dr. Servadio are currently affiliated with Department of Experimental Environmental Medicine and Medical Biotechnologies, University of Milano-Bicocca, Monza, Italy.

Address correspondence and reprint requests to Dr. Giuseppe De Michele or Dr. Alessandro Filla, Dipartimento di Scienze Neurologiche, Università "Federico II," via Pansini 5, 80131 Napoli, Italy; e-mail: demichel{at}unina.it; or afilla@unina.it

The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.

Received April 24, 2003. Accepted in final form July 17, 2003.




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