Autosomal recessive cerebellar hypoplasia in the Hutterite population.
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.
Glass
Hannah C
HC
Division of Neurology, Alberta Children's Hospital, Calgary, Alberta, Canada.
Boycott
Kym M
KM
Adams
Coleen
C
Barlow
Karen
K
Scott
James N
JN
Chudley
Albert E
AE
Fujiwara
T Mary
TM
Morgan
Kenneth
K
Wirrell
Elaine
E
McLeod
D Ross
DR
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