title: Autosomal recessive cerebellar hypoplasia in the Hutterite population.
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 33 y) 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 6 y), 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.
authors.affiliation: Division of Neurology, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Hannah C
authors.initials: HC
authors.lastname: Glass
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.forename: Coleen
authors.initials: C
authors.lastname: Adams
authors.forename: Karen
authors.initials: K
authors.lastname: Barlow
authors.forename: James N
authors.initials: JN
authors.lastname: Scott
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
authors.forename: T Mary
authors.initials: TM
authors.lastname: Fujiwara
authors.forename: Kenneth
authors.initials: K
authors.lastname: Morgan
authors.forename: Elaine
authors.initials: E
authors.lastname: Wirrell
authors.forename: D Ross
authors.initials: DR
authors.lastname: McLeod
mesh_terms: D000293:Adolescent; D000328:Adult; D002170:Canada; D002524:Cerebellar Ataxia / Q000209:etiology / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000209:etiology / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005858:Germany / Q000208:ethnology; D006801:Humans; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome