VLDLR-vezana cerebelumska hipoplazija

VLDLR-vezana cerebelumska hipoplazija
VLDLR-vezana cerebelumska hipoplazija
Drugi nazivi	Disekvilibrijski sindrom (DES), neprogresivni cerebelumski poremećaj sa mentalnom ometenošću
	Simptomi cerebelumske hipoplazije, slične Dandy-Walkerovoj malformaciji kod štenadi jedne čistokrvne rase pasa

VLDLR-vezana hipoplazija malog mozga (VLDLRCH) je rijetko autosomno recesivno stanje uzrokovano poremećajem gena VLDLR.^[1]^[2]

Smatra se da se ovo stanje nasljeđuje po autosomno recesivnom obrascu

Prvi put opisano je kao oblik cerebralne paralize 1970-ih^[3]Povezuje se s roditeljskim srodstvom i nalazi se u osamljenim zajednicama, s brojnim slučajevima opisanim u huteritskim porodicama.^[4]

Reference

^ 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. PMC 1226212. 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.

Vanjski linkovi

[pmid16080122-1] 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. PMC 1226212. PMID 16080122.

[pmid18043714-2] 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_1973-3] Sanner, G. The dysequilibrium syndrome: a genetic study. Neuropaediatrie 4: 403-413, 1973

[pmid7246619-4] 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.

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