Literature DB >> 17101913

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family.

S A Schneider1, B P C van de Warrenburg, T D Hughes, M Davis, M Sweeney, N Wood, N P Quinn, K P Bhatia.   

Abstract

We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 17101913     DOI： 10.1212/01.wnl.0000242740.01273.00

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

Review 1.  Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders.

Authors:  Arun Kumar Verma; Eshan Khan; Sonali R Bhagwat; Amit Kumar
Journal:  Mol Neurobiol       Date:  2019-08-09       Impact factor: 5.590

2.  Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.

Authors:  Sun-Uk Lee; Ji-Soo Kim; Dallah Yoo; Aryun Kim; Hyo-Jung Kim; Jeong-Yoon Choi; Ji-Yun Park; Seong-Hae Jeong; Jong-Min Kim; Kun-Woo Park
Journal:  Cerebellum       Date:  2022-01-07       Impact factor: 3.847

3.  Recent advances in the management of choreas.

Authors:  Jean-Marc Burgunder
Journal:  Ther Adv Neurol Disord       Date:  2013-03       Impact factor: 6.570

4.  Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature.

Authors:  Ruth H Walker
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-01-30

5.  From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

Authors:  Georgios Koutsis; Marios Panas; George P Paraskevas; Anastasia M Bougea; Athina Kladi; Georgia Karadima; Elisabeth Kapaki
Journal:  Case Rep Neurol Med       Date:  2014-10-02

6.  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

7.  Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.

Authors:  Kristina Ibañez; James Polke; R Tanner Hagelstrom; Egor Dolzhenko; Dorota Pasko; Ellen Rachel Amy Thomas; Louise C Daugherty; Dalia Kasperaviciute; Katherine R Smith; Zandra C Deans; Sue Hill; Tom Fowler; Richard H Scott; John Hardy; Patrick F Chinnery; Henry Houlden; Augusto Rendon; Mark J Caulfield; Michael A Eberle; Ryan J Taft; Arianna Tucci
Journal:  Lancet Neurol       Date:  2022-03       Impact factor: 59.935
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.