Literature DB >> 15077248

Chediak-Higashi syndrome with parkinsonism.

Laura Silveira-Moriyama1, Tais S Moriyama, Tatiana V B Gabbi, Ronald Ranvaud, Egberto R Barbosa.   

Abstract

Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We describe the case of a 24-year-old woman with parkinsonism that responded well to antiparkinsonian drugs. Copyright 2003 Movement Disorder Society

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Mesh：

Year:  2004        PMID： 15077248     DOI： 10.1002/mds.10677

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  12 in total

Review 1.  [Chediak-Higashi syndrome].

Authors:  J Wolf; C Jacobi; H Breer; A Grau
Journal:  Nervenarzt       Date:  2006-02       Impact factor: 1.214

2.  Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Authors:  Vikas Bhambhani; Wendy J Introne; Codrin Lungu; Andrew Cullinane; Camilo Toro
Journal:  Mov Disord       Date:  2013-02       Impact factor: 10.338

3.  Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.

Authors:  Bettina Balint; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2015-01-14

4.  Neurologic involvement in patients with atypical Chediak-Higashi disease.

Authors:  Wendy J Introne; Wendy Westbroek; Andrew R Cullinane; Catherine A Groden; Vikas Bhambhani; Gretchen A Golas; Eva H Baker; Tanya J Lehky; Joseph Snow; Shira G Ziegler; David R Adams; Heidi M Dorward; Richard A Hess; Marjan Huizing; William A Gahl; Camilo Toro
Journal:  Neurology       Date:  2016-03-04       Impact factor: 9.910

Review 5.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

Review 6.  Towards the targeted management of Chediak-Higashi syndrome.

Authors:  Maria L Lozano; Jose Rivera; Isabel Sánchez-Guiu; Vicente Vicente
Journal:  Orphanet J Rare Dis       Date:  2014-08-18       Impact factor: 4.123

Review 7.  Vici syndrome: a review.

Authors:  Susan Byrne; Carlo Dionisi-Vici; Luke Smith; Mathias Gautel; Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2016-02-29       Impact factor: 4.123

8.  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Authors:  Susan Byrne; Lara Jansen; Jean-Marie U-King-Im; Ata Siddiqui; Hart G W Lidov; Istvan Bodi; Luke Smith; Rachael Mein; Thomas Cullup; Carlo Dionisi-Vici; Lihadh Al-Gazali; Mohammed Al-Owain; Zandre Bruwer; Khalid Al Thihli; Rana El-Garhy; Kevin M Flanigan; Kandamurugu Manickam; Erik Zmuda; Wesley Banks; Ruth Gershoni-Baruch; Hanna Mandel; Efrat Dagan; Annick Raas-Rothschild; Hila Barash; Francis Filloux; Donnell Creel; Michael Harris; Ada Hamosh; Stefan Kölker; Darius Ebrahimi-Fakhari; Georg F Hoffmann; David Manchester; Philip J Boyer; Adnan Y Manzur; Charles Marques Lourenco; Daniela T Pilz; Arveen Kamath; Prab Prabhakar; Vamshi K Rao; R Curtis Rogers; Monique M Ryan; Natasha J Brown; Catriona A McLean; Edith Said; Ulrike Schara; Anja Stein; Caroline Sewry; Laura Travan; Frits A Wijburg; Martin Zenker; Shehla Mohammed; Manolis Fanto; Mathias Gautel; Heinz Jungbluth
Journal:  Brain       Date:  2016-03       Impact factor: 13.501

9.  Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.

Authors:  Adam Hedberg-Buenz; Laura M Dutca; Demelza R Larson; Kacie J Meyer; Dana A Soukup; Carly J van der Heide; Hannah E Mercer; Kai Wang; Michael G Anderson
Journal:  Sci Rep       Date:  2019-05-01       Impact factor: 4.379

10.  Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Authors:  James D Weisfeld-Adams; Lakshmi Mehta; Janet C Rucker; Francine R Dembitzer; Arnold Szporn; Fred D Lublin; Wendy J Introne; Vikas Bhambhani; Michael C Chicka; Catherine Cho
Journal:  Orphanet J Rare Dis       Date:  2013-03-22       Impact factor: 4.123
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