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autosomal recessive cerebellar hypoplasia in the hutterite population

Published online by Cambridge University Press:  12 September 2005

hannah c glass
Affiliation:
division of neurology, alberta children's hospital, calgary, alberta, canada.
kym m boycott
Affiliation:
department of medical genetics, alberta children's hospital, calgary, alberta, canada.
coleen adams
Affiliation:
victoria general hospital, victoria, british columbia, canada.
karen barlow
Affiliation:
division of neurology, alberta children's hospital, calgary, alberta, canada.
james n scott
Affiliation:
department of radiology, foothills hospital, calgary, alberta, canada.
albert e chudley
Affiliation:
section of genetics and metabolism, children's hospital, university of manitoba, winnipeg, canada.
t mary fujiwara
Affiliation:
department of human genetics and medicine, mcgill university, montréal, québec, canada.
kenneth morgan
Affiliation:
department of human genetics and medicine, mcgill university, montréal, québec, canada.
elaine wirrell
Affiliation:
division of neurology, alberta children's hospital, calgary, alberta, canada.
d ross mcleod
Affiliation:
department of medical genetics, alberta children's hospital, calgary, alberta, canada.
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Abstract

cerebellar hypoplasia is a rare malformation caused by a variety of etiologies. it usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation. we further characterize a syndrome of autosomal recessive cerebellar hypoplasia in the hutterite population, referred to as dysequilibrium syndrome (des). we reviewed 12 patients (eight females, four males; age range 4 to 33y) with this syndrome. patients were examined and underwent a standard set of investigations to characterize better the clinical features, natural history, and neuroimaging of this syndrome. des is an autosomal recessive disorder with distinct clinical features including global developmental delay, late ambulation (after age 6y), truncal ataxia, and a static clinical course. neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri.

Type
original articles
Copyright
© 2005 mac keith press

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