Literature DB >> 29954774

Rare case of Gordon Holmes syndrome.

Rajesh Verma1, Mannan Mehta2, Chetan Shettigar2, Shinu Singla2.   

Abstract

Young-onset cerebellar syndromes are quite interesting and challenging for treating clinicians. While dealing with such cases, a clinician should be aware of rare possible causes too. We report a rare case of Gordon Holmes syndrome-an autosomal recessive cerebellar ataxia with endocrinal abnormalities. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  movement disorders (other than parkinsons); neuroendocrinology; neuroimaging; neurology (drugs and medicines)

Mesh:

Substances:

Year:  2018        PMID: 29954774      PMCID: PMC6040515          DOI: 10.1136/bcr-2018-225638

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

1.  Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Authors:  David H Margolin; Maria Kousi; Yee-Ming Chan; Elaine T Lim; Jeremy D Schmahmann; Marios Hadjivassiliou; Janet E Hall; Ibrahim Adam; Andrew Dwyer; Lacey Plummer; Stephanie V Aldrin; Julia O'Rourke; Andrew Kirby; Kasper Lage; Aubrey Milunsky; Jeff M Milunsky; Jennifer Chan; E Tessa Hedley-Whyte; Mark J Daly; Nicholas Katsanis; Stephanie B Seminara
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

2.  Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Authors:  Stephanie B Seminara; James S Acierno; Najim A Abdulwahid; William F Crowley; David H Margolin
Journal:  J Clin Endocrinol Metab       Date:  2002-04       Impact factor: 5.958

3.  TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.

Authors:  Nilofer Husain; Qiang Yuan; Yi-Chun Yen; Olga Pletnikova; Dong Qianying Sally; Paul Worley; Zoë Bichler; H Shawn Je
Journal:  Aging Cell       Date:  2016-12-20       Impact factor: 9.304

4.  Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.

Authors:  Mohammed Alqwaifly; Saeed Bohlega
Journal:  Neurol Int       Date:  2016-06-15
  4 in total

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