Neurology
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Published online before print August 31, 2005, doi:10.1212/01.wnl.0000177490.05162.41)
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Received April 24, 2005
Accepted June 20, 2005

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

M. F. Waters MD, PhD, D. Fee MD, K. P. Figueroa MS, D. Nolte PhD, U. Müller MD, PhD, J. Advincula MD, H. Coon MD, V. G. Evidente MD, and S. M. Pulst MD*

From the Division of Neurology and Rose Moss Laboratory for Parkinson’s and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, California (Drs. Waters and Fee, Ms. Figueroa, and Dr. Pulst); Institut fur Humangenetik Justus-Liebig-Universität, Germany (Drs. Müller and Nolte); Western Visayas State University Medical Center, Iloilo City, Philippines (Dr. Advincula); University of Utah Medical Center, Salt Lake City (Dr. Coon); Mayo Clinic, Scottsdale, Arizona (Dr. Evidente); and Departments of Medicine and Neurobiology, David Geffen School of Medicine at University of California, Los Angeles (Dr. Pulst).


* To whom correspondence should be addressed. E-mail: stefan.pulst{at}cshs.org.

Abstract-- The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.






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