Literature DB >> 4061489

Disequilibrium syndrome in Montana Hutterites.

P D Pallister, J M Opitz.   

Abstract

This is a preliminary note on the occurrence of the disequilibrium syndrome (DES) in the Dariusleut Hutterites of Montana. Previously the condition was reported in the Dariusleut of Alberta by Schurig et al [1981] as an autosomal recessive, non-progressive neurological disorder with congenital hypotonia, considerable psychomotor retardation, unsteady broadly based gait and stance, increased deep tendon reflexes, and mild to moderate mental retardation. Affected individuals were short. In the Montana family studied by us in 1981, a brother and three sisters are affected.

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Year:  1985        PMID: 4061489     DOI: 10.1002/ajmg.1320220314

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

Authors:  Kym M Boycott; Shauna Flavelle; Alexandre Bureau; Hannah C Glass; T Mary Fujiwara; Elaine Wirrell; Krista Davey; Albert E Chudley; James N Scott; D Ross McLeod; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2005-07-22       Impact factor: 11.025

2.  Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Authors:  Luis E Kolb; Zulfikar Arlier; Cengiz Yalcinkaya; Ali K Ozturk; Jennifer A Moliterno; Ozdem Erturk; Fatih Bayrakli; Baris Korkmaz; Michael L DiLuna; Katsuhito Yasuno; Kaya Bilguvar; Tayfun Ozcelik; Beyhan Tuysuz; Matthew W State; Murat Gunel
Journal:  Neurogenetics       Date:  2010-01-15       Impact factor: 2.660

3.  Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Authors:  Kym M Boycott; Carsten Bonnemann; Joachim Herz; Stephanie Neuert; Chandree Beaulieu; James N Scott; Anuradha Venkatasubramanian; Jillian S Parboosingh
Journal:  J Child Neurol       Date:  2009-03-30       Impact factor: 1.987

4.  Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.

Authors:  Uner Tan
Journal:  Open Neurol J       Date:  2010-07-16
  4 in total

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