Literature DB >> 30363907

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

Bettina Balint1,2, Kailash P Bhatia1.   

Abstract

Entities:  

Keywords:  Chediak‐Higashi Syndrome; albinism; cerebellar ataxia; dystonia; juvenile parkinsonism

Year:  2015        PMID： 30363907      PMCID： PMC6183190          DOI： 10.1002/mdc3.12111

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


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  24 in total

1.  Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

Authors:  O HIGASHI
Journal:  Tohoku J Exp Med       Date:  1954-02-25       Impact factor: 1.848

2.  Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Authors:  Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

3.  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

4.  Peripheral neuropathy in the Chediak-Higashi syndrome.

Authors:  V P Misra; R H King; A E Harding; J R Muddle; P K Thomas
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

5.  Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

Authors:  Marc Tardieu; Catherine Lacroix; Bénédicte Neven; Pierre Bordigoni; Geneviève de Saint Basile; Stéphane Blanche; Alain Fischer
Journal:  Blood       Date:  2005-03-24       Impact factor: 22.113

6.  Motor neuronopathy in Chediak-Higashi syndrome.

Authors:  S Mathis; P Cintas; G de Saint-Basile; L Magy; B Funalot; J-M Vallat
Journal:  J Neurol Sci       Date:  2014-06-21       Impact factor: 3.181

7.  Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Authors:  R A Hauser; J Friedlander; M J Baker; J Thomas; K S Zuckerman
Journal:  Mov Disord       Date:  2000-07       Impact factor: 10.338

8.  Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Authors:  Haruo Shimazaki; Junko Honda; Tametou Naoi; Michito Namekawa; Imaharu Nakano; Masahide Yazaki; Katsuya Nakamura; Kunihiro Yoshida; Shu-ichi Ikeda; Hiroyuki Ishiura; Yoko Fukuda; Yuji Takahashi; Jun Goto; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-02-12       Impact factor: 10.154

9.  Chédiak-Higashi syndrome. Neurologic appearance.

Authors:  R E Pettit; K G Berdal
Journal:  Arch Neurol       Date:  1984-09

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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  2 in total

Review 1.  Movement Disorders and Hematologic Diseases.

Authors:  Roshni Abee Patel; Deborah A Hall; Sheila Eichenseer; Meagan Bailey
Journal:  Mov Disord Clin Pract       Date:  2020-12-29

2.  The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Authors:  Celine Deneubourg; Mauricio Ramm; Luke J Smith; Olga Baron; Kritarth Singh; Susan C Byrne; Michael R Duchen; Mathias Gautel; Eeva-Liisa Eskelinen; Manolis Fanto; Heinz Jungbluth
Journal:  Autophagy       Date:  2021-08-19       Impact factor: 13.391
  2 in total

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