Literature DB >> 29377035

The non-Huntington disease choreas: Five new things.

Ruth H Walker1.   

Abstract

PURPOSE OF REVIEW: Chorea can be due to a wide variety of causes. In this review, I provide updates on several recently identified genetic and autoimmune causes of chorea, and review evidence supporting the use of deep brain stimulation in chorea. RECENT
FINDINGS: New genes that may cause chorea include ADCY5 (encoding for adenylate cyclase 5) C9ORF72 (in addition to amyotrophic lateral sclerosis and frontotemporal dementia), and those responsible for the neurodegeneration with brain iron accumulation disorders. Novel autoantibodies are increasingly being identified as associated with a variety of neurologic syndromes, including chorea, in both paraneoplastic and non-paraneoplastic settings. Deep brain stimulation can be a useful intervention in patients with chorea who do not respond to oral medications, whether due to neurodegenerative or nondegenerative causes.
SUMMARY: New causes of chorea continue to be identified. Correct diagnosis is essential for prognostication and treatment.

Entities:  

Year:  2016        PMID: 29377035      PMCID: PMC5720620          DOI: 10.1212/CPJ.0000000000000236

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


  20 in total

1.  IgLON5 autoimmunity and abnormal behaviours during sleep.

Authors:  Birgit Högl; Anna Heidbreder; Joan Santamaria; Francesc Graus; Werner Poewe
Journal:  Lancet       Date:  2015-04-18       Impact factor: 79.321

2.  Gluten chorea.

Authors:  Carlos Andrade; Helena Rocha; Andreia Albuquerque; Maria José Sá
Journal:  Clin Neurol Neurosurg       Date:  2015-07-17       Impact factor: 1.876

Review 3.  Diagnosis and treatment of chorea syndromes.

Authors:  Andreas Hermann; Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2015       Impact factor: 5.081

4.  C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.

Authors:  Vladimir S Kostić; Valerija Dobričić; Iva Stanković; Vesna Ralić; Elka Stefanova
Journal:  J Neurol       Date:  2014-07-18       Impact factor: 4.849

5.  A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Authors:  Katsuya Nishida; Holly J Garringer; Naonobu Futamura; Itaru Funakawa; Kenji Jinnai; Ruben Vidal; Masaki Takao
Journal:  J Neurol Sci       Date:  2014-04-12       Impact factor: 3.181

6.  A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.

Authors:  Lidia Sabater; Carles Gaig; Ellen Gelpi; Luis Bataller; Jan Lewerenz; Estefanía Torres-Vega; Angeles Contreras; Bruno Giometto; Yaroslau Compta; Cristina Embid; Isabel Vilaseca; Alex Iranzo; Joan Santamaría; Josep Dalmau; Francesc Graus
Journal:  Lancet Neurol       Date:  2014-04-03       Impact factor: 44.182

7.  Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Authors:  Ying-Zhang Chen; Jennifer R Friedman; Dong-Hui Chen; Guy C-K Chan; Cinnamon S Bloss; Fuki M Hisama; Sarah E Topol; Andrew R Carson; Phillip H Pham; Emily S Bonkowski; Erick R Scott; Janel K Lee; Guangfa Zhang; Glenn Oliveira; Jian Xu; Ashley A Scott-Van Zeeland; Qi Chen; Samuel Levy; Eric J Topol; Daniel Storm; Phillip D Swanson; Thomas D Bird; Nicholas J Schork; Wendy H Raskind; Ali Torkamani
Journal:  Ann Neurol       Date:  2014-03-13       Impact factor: 10.422

8.  Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Authors:  Ying-Zhang Chen; Mark M Matsushita; Peggy Robertson; Mark Rieder; Santhosh Girirajan; Francesca Antonacci; Hillary Lipe; Evan E Eichler; Deborah A Nickerson; Thomas D Bird; Wendy H Raskind
Journal:  Arch Neurol       Date:  2012-05

9.  C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Authors:  Davina J Hensman Moss; Mark Poulter; Jon Beck; Jason Hehir; James M Polke; Tracy Campbell; Garry Adamson; Ese Mudanohwo; Peter McColgan; Andrea Haworth; Edward J Wild; Mary G Sweeney; Henry Houlden; Simon Mead; Sarah J Tabrizi
Journal:  Neurology       Date:  2013-12-20       Impact factor: 9.910

10.  Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.

Authors:  Marie Miquel; Umberto Spampinato; Chrystelle Latxague; Iciar Aviles-Olmos; Benedikt Bader; Kelly Bertram; Kailash Bhatia; Pierre Burbaud; Lothar Burghaus; Jin Whan Cho; Emmanuel Cuny; Adrian Danek; Thomas Foltynie; Pedro J Garcia Ruiz; Santiago Giménez-Roldán; Dominique Guehl; Jorge Guridi; Marwan Hariz; Paul Jarman; Zinovia Maria Kefalopoulou; Patricia Limousin; Nir Lipsman; Andres M Lozano; Elena Moro; Dhita Ngy; Maria Cruz Rodriguez-Oroz; Huifang Shang; Hyeeun Shin; Ruth H Walker; Fusako Yokochi; Ludvic Zrinzo; François Tison
Journal:  PLoS One       Date:  2013-11-05       Impact factor: 3.240

View more
  3 in total

1.  Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

Authors:  Joana Martins; Joana Damásio; Alexandre Mendes; Nuno Vila-Chã; José E Alves; Cristina Ramos; Sara Cavaco; João Silva; Isabel Alonso; Marina Magalhães
Journal:  Neurol Sci       Date:  2018-02-13       Impact factor: 3.307

2.  Screening of Methylation Signature and Gene Functions Associated With the Subtypes of Isocitrate Dehydrogenase-Mutation Gliomas.

Authors:  XiaoYong Pan; Tao Zeng; Fei Yuan; Yu-Hang Zhang; Lei Chen; LiuCun Zhu; SiBao Wan; Tao Huang; Yu-Dong Cai
Journal:  Front Bioeng Biotechnol       Date:  2019-11-14

3.  Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

Authors:  Quang Tuan Rémy Nguyen; Juan Dario Ortigoza Escobar; Jean-Marc Burgunder; Caterina Mariotti; Carsten Saft; Lena Elisabeth Hjermind; Katia Youssov; G Bernhard Landwehrmeyer; Anne-Catherine Bachoud-Lévi
Journal:  Front Neurol       Date:  2022-02-10       Impact factor: 4.086

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.