Neural basis of an inherited speech and language disorder.

Details

Serval ID
serval:BIB_BE8E97E8F96B
Type
Article: article from journal or magazin.
Collection
Publications
Title
Neural basis of an inherited speech and language disorder.
Journal
Proceedings of the National Academy of Sciences of the United States of America
Author(s)
Vargha-Khadem F., Watkins K.E., Price C.J., Ashburner J., Alcock K.J., Connelly A., Frackowiak R.S., Friston K.J., Pembrey M.E., Mishkin M., Gadian D.G., Passingham R.E.
ISSN
0027-8424 (Print)
ISSN-L
0027-8424
Publication state
Published
Issued date
1998
Volume
95
Number
21
Pages
12695-12700
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
Investigation of the three-generation KE family, half of whose members are affected by a pronounced verbal dyspraxia, has led to identification of their core deficit as one involving sequential articulation and orofacial praxis. A positron emission tomography activation study revealed functional abnormalities in both cortical and subcortical motor-related areas of the frontal lobe, while quantitative analyses of magnetic resonance imaging scans revealed structural abnormalities in several of these same areas, particularly the caudate nucleus, which was found to be abnormally small bilaterally. A recent linkage study [Fisher, S., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P. & Pembry, M. E. (1998) Nat. Genet. 18, 168-170] localized the abnormal gene (SPCH1) to a 5. 6-centiMorgan interval in the chromosomal band 7q31. The genetic mutation or deletion in this region has resulted in the abnormal development of several brain areas that appear to be critical for both orofacial movements and sequential articulation, leading to marked disruption of speech and expressive language.
Keywords
Brain/physiopathology, Brain/radiography, Humans, Language Disorders/genetics, Language Disorders/physiopathology, Magnetic Resonance Imaging, Pedigree, Phenotype, Speech Disorders/genetics, Speech Disorders/physiopathology, Tomography, Emission-Computed
Pubmed
Create date
16/09/2011 17:25
Last modification date
20/08/2019 16:32
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