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VLDLR-associated cerebellar hypoplasia

Field	Value
name	VLDLR-associated cerebellar hypoplasia
synonyms	Dysequilibrium syndrome, DES; Nonprogressive cerebellar disorder with mental retardation)

VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a form of cerebral palsy in the 1970s, it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families.

References

(2005). "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification". Am. J. Hum. Genet..
(2008). "Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome". Eur. J. Hum. Genet..
Sanner, G. The dysequilibrium syndrome: a genetic study. Neuropaediatrie 4: 403-413, 1973
(1981). "Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites". Am. J. Med. Genet..

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congenital-disorders-of-nervous-system

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