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 Volume 59, Number 3, August 13, 2002
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Neurology 2002;59:432-435
© 2002 American Academy of Neurology
Brief Communications

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

J. Jen, MD, PhD, C.J. Coulin, T.M. Bosley, MD, M.A.M. Salih, MD, C. Sabatti, PhD, S.F. Nelson, MD and R.W. Baloh, MD

From the Departments of Neurology (Drs. Jen and Baloh, and C.J. Coulin), Human Genetics (Drs. Sabatti and Nelson), and Surgery, Division of Head & Neck Surgery (Dr. Baloh), UCLA School of Medicine, Los Angeles, CA; Institute of Anatomy (C.J. Coulin), University of Freiburg, Germany; Neurology (Dr. Bosley), King Khaled Eye Specialist Hospital, Saudi Arabia; and Pediatric Neurology (Dr. Salih), King Khalid University Hospital, Saudi Arabia.

Address correspondence and reprint requests to Dr. Joanna Jen, Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095-1769; e-mail: jjen{at}ucla.edu

Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).




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