VLDLR-associated cerebellar hypoplasia
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VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene.[1][2] First described as a form of cerebral palsy in the 1970s,[3] it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families.[4]
References
- ↑ Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS (2005). "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification". Am. J. Hum. Genet. 77 (3): 477–83. doi:10.1086/444400. PMID 16080122.
- ↑ Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW (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. 16 (2): 270–3. doi:10.1038/sj.ejhg.5201967. PMID 18043714.
- ↑ Sanner, G. The dysequilibrium syndrome: a genetic study. Neuropaediatrie 4: 403-413, 1973
- ↑ Schurig V, Orman AV, Bowen P (1981). "Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites". Am. J. Med. Genet. 9 (1): 43–53. doi:10.1002/ajmg.1320090109. PMID 7246619.