Literature DB >> 11254776

Wilson's disease presenting in a family with an apparent dominant history of tremor.

D J Nicholl1, P Ferenci, C Polli, M B Burdon, H S Pall.   

Abstract

A patient with Wilson's disease is described who presented with dystonic tremor in a family with an apparent dominant history of tremor. Subsequent investigation showed that the patient's mother had essential tremor, with molecular analysis of the ATP7B gene excluding the possibility of pseudodominant inheritance. This case highlights the importance of considering the possibility of Wilson's disease in every young patient with a movement disorder, even where the clinical picture does not suggest a recessively inherited disorder.

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Year:  2001        PMID: 11254776      PMCID: PMC1737296          DOI: 10.1136/jnnp.70.4.514

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  4 in total

Review 1.  Neurogenetics: single gene disorders.

Authors:  S-M Pulst
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-12       Impact factor: 10.154

2.  Pseudo-dominant inheritance in Wilson’s disease.

Authors: 
Journal:  Neurol Sci       Date:  2016-01       Impact factor: 3.307

3.  Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.

Authors:  G Gromadzka; G Chabik; T Mendel; A Wierzchowska; M Rudnicka; A Czlonkowska
Journal:  J Genet       Date:  2010-12       Impact factor: 1.166

4.  Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.

Authors:  Gudlaug Tórsdóttir; Grétar Gudmundsson; Jakob Kristinsson; Jón Snaedal; Torkell Jóhannesson
Journal:  Neuropsychiatr Dis Treat       Date:  2009-04-08       Impact factor: 2.570

  4 in total

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