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 Volume 59, Number 4, August 27, 2002
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Neurology 2002;59:579-584
© 2002 American Academy of Neurology

Clinical and genetic heterogeneity in benign hereditary chorea

G. J. Breedveld, BSc, A. K. Percy, MD, M. E. MacDonald, PhD, B. B.A. de Vries, MD PhD, C. Yapijakis, DMD PhD, L. S. Dure, MD, E. F. Ippel, MD, L. A. Sandkuijl, PhD, P. Heutink, PhD and W. F.M. Arts, MD PhD

From the Department of Clinical Genetics (G. Breedveld, Drs. de Vries, Sandkuijl, and Heutink) and the Department of Pediatric Neurology (Dr. Arts), Erasmus University, Rotterdam, the Netherlands; Division of Pediatric Neurology (Drs. Percy and Dure), University of Alabama at Birmingham, AL; Molecular Neurogenetics Unit (Dr. MacDonald), Massachusetts General Hospital, Charlestown, MA; Department of Neurology (Dr. Yapijakis), University of Athens Medical School, Greece; and the Division of Medical Genetics (Dr. Ippel), University Medical Center, Utrecht, and Department of Human Genetics (Dr. de Vries), University Medical Center Nijmegen, the Netherlands.

Address correspondence and reprint requests to Willem F.M. Arts, MD, PhD, Department of Pediatric Neurology, Erasmus MC/Sophia Children’s Hospital, P.O. Box 2060, 3000 CB Rotterdam, the Netherlands; e-mail: arts{at}neur.azr.nl

Background: Benign hereditary chorea (BHC) is an autosomal dominant disorder that can be distinguished from Huntington disease by its early onset, stable or only slightly progressive course, and absence of mental deterioration. The variation in clinical features is such that its very existence has been doubted. The authors recently described the localization of a gene responsible for BHC on chromosome 14q in a large Dutch family.

Objective: To report results of extensive clinical and linkage analyses for this Dutch family and six other families with BHC.

Results: Three of the seven families had linkage to a region on chromosome 14q13.1-q21.1. HOMOG analysis showed odds of 10 x 1011 in favor of locus heterogeneity. Haplotype analyses for the linked families resulted in a reduction of the critical interval for the BHC gene to 8.4 cM between marker D14S49 and marker D14S278. Clinically, these three families had a homogeneous picture with early-onset chorea, sometimes accompanied by slight ataxia in walking, but without dystonia, myoclonic jerks, or dysarthria. The severity of the choreatic movements tended to abate in adolescence or early adulthood. In the unlinked families, symptoms and signs were more heterogeneous as to age at onset and the occurrence of myoclonic jerks or dystonia.

Conclusions: BHC is a clinically and genetically heterogeneous disorder, with one well-defined clinical syndrome mapping to chromosome 14q.




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