Ontology highlight
ABSTRACT:
SUBMITTER: Boycott KM
PROVIDER: S-EPMC2849979 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Boycott Kym M KM Bonnemann Carsten C Herz Joachim J Neuert Stephanie S Beaulieu Chandree C Scott James N JN Venkatasubramanian Anuradha A Parboosingh Jillian S JS
Journal of child neurology 20090330 10
Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR. An 18-month-old girl presented with significant hypotonia, global developmental delay, and truncal and peripheral ataxia. Magnetic resonance imaging of the brain demonstrated hypoplasia of the inferior cerebellar vermis and hemispheres, small pons, and a simplifi ...[more]