VLDLR-associated cerebellar hypoplasia
MOLECULAR MEDICINE, NEUROLOGY
An autosomal recessive condition (OMIM:224050) characterised by non-progressive congenital ataxia, predominantly truncal, resulting in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children walk very late (age > 6) or not at all.
Genetics It was first described in Hutterites in North America; it also occurs in consanguineous families from Iran and Turkey.
Molecular pathology Deletions of VLDLR, which encodes very low density lipoprotein receptor, cause VLDLR-associated cerebellar hypoplasia.
Synonyms DES, dysequilibrium syndrome, nonprogressive cerebellar disorder with mental retardation, VLDLRCH