Autosomal recessive cerebellar hypoplasia in the Hutterite population

Hannah C. Glass, Kym M. Boycott, Coleen Adams, Karen Barlow, James N. Scott, Albert E. Chudley, T. Mary Fujiwara, Kenneth Morgan, Elaine Wirrell, D. Ross McLeod

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)691-695
Number of pages5
JournalDevelopmental Medicine and Child Neurology
Volume47
Issue number10
DOIs
StatePublished - Oct 1 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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    Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., Wirrell, E., & McLeod, D. R. (2005). Autosomal recessive cerebellar hypoplasia in the Hutterite population. Developmental Medicine and Child Neurology, 47(10), 691-695. https://doi.org/10.1017/S0012162205001404