Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Rajab, A.
Right arrow Articles by Walsh, C. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Rajab, A.
Right arrow Articles by Walsh, C. A.
Related Collections
Right arrow MRI
Right arrow All Pediatric
Right arrow Developmental disorders
Right arrow All Epilepsy/Seizures
Right arrow All Genetics
Right arrow Genetic linkage

Neurology 2003;60:1664-1667
© 2003 American Academy of Neurology

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

A. Rajab, MRCP PhD*, G. H. Mochida, MD*, A. Hill, PhD, V. Ganesh, A. Bodell, MS, A. Riaz, MD DM, P. E. Grant, MD, Y. Y. Shugart, PhD and C. A. Walsh, MD PhD

From the Genetic Unit (Drs. Rajab and Riaz), DGHA, Ministry of Health, Sultanate of Oman; Division of Neurogenetics and Howard Hughes Medical Institute (Drs. Mochida, Hill, and Walsh, and V. Ganesh and A. Bodell), Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA; Pediatric Neurology Unit (Dr. Mochida), Department of Neurology, and Neuroradiology Section (Dr. Grant), Department of Radiology, Massachusetts General Hospital, Boston; Center for Inherited Disease Research (Dr. Shugart), Johns Hopkins University School of Medicine, Baltimore; and Department of Epidemiology (Dr. Shugart), Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD.
*These authors contributed equally to this work.

Address correspondence and reprint requests to Dr. Christopher A. Walsh, Bullard Professor of Neurology, Harvard Medical School, BIDMC, Room 816, Harvard Institutes of Medicine, 77 Avenue Louis Pasteur, Boston, MA 02115.

Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus.

Background: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date.

Methods: The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies and linkage analysis of this pedigree.

Results: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. Imaging studies showed a small pons and cerebellum, prominent sulci and lateral ventricles, and decreased cerebral white matter volume. A lack of dyskinesias distinguishes this pedigree from PCH type 2. Genetic studies of this family revealed evidence of significant linkage to chromosome 7q11-21 (maximum multipoint lod score 3.23).

Conclusions: This pedigree represents a novel form of autosomal recessive PCH, which the authors propose to call cerebellar atrophy with progressive microcephaly (CLAM). This disorder maps to chromosome 7q11-21, and this locus was named CLAM. This report represents the first identification of a genetic locus for PCH.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by AAN Enterprises, Inc.