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autosomal recessive cerebellar hypoplasia in the hutterite population

  • hannah c glass (a1), kym m boycott (a2), coleen adams (a3), karen barlow (a1), james n scott (a4), albert e chudley (a5), t mary fujiwara (a6), kenneth morgan (a6), elaine wirrell (a1) and d ross mcleod (a2)...

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.

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Corresponding author

department of genetics, children's hospital of eastern ontario, 401 smyth road, ottawa, on, k1h 8l1, canada. e-mail: kboycott@cheo.on.ca

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