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


     

Published online before print May 7, 2008, doi:10.1212/01.wnl.0000291012.49986.f9)
This Article
Right arrow Full Text (Rapid PDF)
Right arrow Data Supplement
Right arrow All Versions of this Article:
01.wnl.0000291012.49986.f9v1
70/24_Part_2/2357    most recent
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
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 HighWire
Google Scholar
Right arrow Articles by Mineharu, Y.
Right arrow Articles by Koizumi, A.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mineharu, Y.
Right arrow Articles by Koizumi, A.
Received June 8, 2007
Accepted September 12, 2007

Autosomal dominant moyamoya disease maps to chromosome 17q25.3

Y. Mineharu MD, W. Liu MD, MPH, K. Inoue MD, MPH, PhD, N. Matsuura , S. Inoue PhD, K. Takenaka MD, PhD, H. Ikeda MD, PhD, K. Houkin MD, PhD, Y. Takagi MD, PhD, K. Kikuta MD, PhD, K. Nozaki MD, PhD, N. Hashimoto MD, PhD, and A. Koizumi MD, PhD*

From the Departments of Health and Environmental Sciences (Y.M., W.L., K.I., N.M., S.I., A.K.), and Neurosurgery (Y.M., Y.T., K.K., K.N., N.H.), Kyoto University Graduate School of Medicine; Takayama Red Cross Hospital (K.T.); Department of Neurosurgery, Ohara Medical Center (H.I.), Fukushima; and Department of Neurological Surgery, Sapporo Medical University Graduate School of Medicine (K.H.), Sapporo, Japan.


* To whom correspondence should be addressed. E-mail: koizumi{at}pbh.med.kyoto-u.ac.jp.

Background: Moyamoya disease (MMD) is an idiopathic steno-occlusive cerebrovascular disease that represents an important cause of stroke. However, etiology of the disease has remained largely unknown.

Methods: We previously showed that the inheritance pattern of MMD is autosomal dominant with incomplete penetrance. Here, we report the genome-wide parametric linkage analysis for MMD in 15 extended Japanese families. We conducted linkage analyses under two diagnostic classifications: narrow and broad. Affected member-only analysis was applied due to incomplete and age-dependent penetrance of the disease.

Results: Under both classifications, significant evidence of linkage was only observed on chromosome 17q25.3, with maximum multipoint logarithm of odds (lod) scores of 6.57 (under the narrow classification) and 8.07 (under the broad classification) at D17S704. Haplotype analysis revealed segregation of a disease haplotype in all families but one, and informative crossovers enabled mapping of the MMD locus to a 3.5-Mb region between D17S1806 and the telomere of 17q, encompassing 94 annotated genes.

Conclusions: Our data suggest that there is a major gene locus for autosomal dominant moyamoya disease on chromosome 17q25.3.




This article has been cited by other articles:


Home page
 NeurologyHome page
J. F. Meschia and O. A. Ross
Heterogeneity of Moyamoya disease: After a decade of linkage, is there new hope for a gene?
Neurology, June 10, 2008; 70(24_Part_2): 2353 - 2354.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2008 by AAN Enterprises, Inc.