Literature DB >> 34631935

Movement Disorders Associated with Hypogonadism.

Paulina Gonzalez-Latapi1, Mario Sousa1, Anthony E Lang1,2.   

Abstract

A variety of movement disorders can be associated with hypogonadism. Identification of this association may aid in guiding workup and reaching an accurate diagnosis. We conducted a comprehensive and structured search to identify the most common movement disorders associated with hypogonadism. Only Case Reports and Case Series articles were included. Ataxia was the most common movement disorder associated with hypogonadism, including entities such as Gordon-Holmes syndrome, Boucher-Neuhäuser, Marinesco-Sjögren and Perrault syndrome. Tremor was also commonly described, particularly with aneuploidies such as Klinefelter syndrome and Jacob's syndrome. Other rare conditions including mitochondrial disorders and Woodhouse-Sakati syndrome are associated with dystonia and parkinsonism and either hypo or hypergonadotropic hypogonadism. We also highlight those entities where a combination of movement disorders is present. Hypogonadism may be more commonly associated with movement disorders than previously appreciated. It is important for the clinician to be aware of this association, as well as accompanying symptoms in order to reach a precise diagnosis.
© 2021 International Parkinson and Movement Disorder Society.

Entities:  

Keywords:  hypogonadism; movement disorders; neurogenetics

Year:  2021        PMID: 34631935      PMCID: PMC8485629          DOI: 10.1002/mdc3.13308

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


  104 in total

1.  Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.

Authors:  J M Van Raamsdonk
Journal:  Clin Genet       Date:  2006-05       Impact factor: 4.438

Review 2.  Approach to the patient with hypogonadotropic hypogonadism.

Authors:  Letícia Ferreira Gontijo Silveira; Ana Claudia Latronico
Journal:  J Clin Endocrinol Metab       Date:  2013-05       Impact factor: 5.958

3.  Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.

Authors:  A Barrientos; J Casademont; D Genís; F Cardellach; J M Fernández-Real; J M Grau; A Urbano-Márquez; X Estivill; V Nunes
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

4.  RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Authors:  Patrick Santens; Tim Van Damme; Wouter Steyaert; Andy Willaert; Bernard Sablonnière; Anne De Paepe; Paul J Coucke; Bart Dermaut
Journal:  Neurology       Date:  2015-04-03       Impact factor: 9.910

5.  Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Authors:  Emma M Jenkinson; Atteeq U Rehman; Tom Walsh; Jill Clayton-Smith; Kwanghyuk Lee; Robert J Morell; Meghan C Drummond; Shaheen N Khan; Muhammad Asif Naeem; Bushra Rauf; Neil Billington; Julie M Schultz; Jill E Urquhart; Ming K Lee; Andrew Berry; Neil A Hanley; Sarju Mehta; Deirdre Cilliers; Peter E Clayton; Helen Kingston; Miriam J Smith; Thomas T Warner; Graeme C Black; Dorothy Trump; Julian R E Davis; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Mary-Claire King; Thomas B Friedman; William G Newman
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

6.  Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.

Authors:  N I Wolf; I Harting; A M Innes; S Patzer; P Zeitler; A Schneider; A Wolff; K Baier; J Zschocke; F Ebinger; E Boltshauser; D Rating
Journal:  Neuropediatrics       Date:  2007-04       Impact factor: 1.947

7.  Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.

Authors:  A Kemal Topaloglu; Alejandro Lomniczi; Doris Kretzschmar; Gregory A Dissen; L Damla Kotan; Craig A McArdle; A Filiz Koc; Ben C Hamel; Metin Guclu; Esra D Papatya; Erdal Eren; Eda Mengen; Fatih Gurbuz; Mandy Cook; Juan M Castellano; M Burcu Kekil; Neslihan O Mungan; Bilgin Yuksel; Sergio R Ojeda
Journal:  J Clin Endocrinol Metab       Date:  2014-07-17       Impact factor: 5.958

8.  Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Authors:  Lee-Jun C Wong; Robert K Naviaux; Nicola Brunetti-Pierri; Qing Zhang; Eric S Schmitt; Cavatina Truong; Margherita Milone; Bruce H Cohen; Beverly Wical; Jaya Ganesh; Alice A Basinger; Barbara K Burton; Kathryn Swoboda; Donald L Gilbert; Adeline Vanderver; Russell P Saneto; Bruno Maranda; Georgianne Arnold; Jose E Abdenur; Paula J Waters; William C Copeland
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878

9.  47,XYY syndrome: clinical phenotype and timing of ascertainment.

Authors:  Martha Zeger Bardsley; Karen Kowal; Carly Levy; Ania Gosek; Natalie Ayari; Nicole Tartaglia; Najiba Lahlou; Breanna Winder; Shannon Grimes; Judith L Ross
Journal:  J Pediatr       Date:  2013-06-27       Impact factor: 4.406

Review 10.  Tremor associated with Klinefelter syndrome--a case series and review of the literature.

Authors:  Mariella Koegl-Wallner; Petra Katschnig-Winter; Tamara Pendl; Barbara Melisch; Martin Trummer; Etienne Holl; Ulrike Werner; Reinhold Schmidt; Petra Schwingenschuh
Journal:  Parkinsonism Relat Disord       Date:  2013-12-04       Impact factor: 4.891

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