Literature DB >> 11794486

Cerebellar/spinocerebellar syndromes.

C Mariotti1, S Di Donato.   

Abstract

Spinocerebellar syndromes are a heterogeneous group of neurological disorders clinically characterized by dysequilibrium, progressive incoordination of gait and limbs, and speech and eye movement disturbances. Clinical classification and differential diagnosis are intricate due to the great variability of the phenotypic, pathogenic, neuropathological and genetic aspects of these diseases. Spinocerebellar syndromes may present as sporadic, nongenetic, disorders or as familial forms. Clinical and genetic classifications of autosomal dominant and recessive spinocerebellar ataxias are briefly reviewed. Distinguishing clinical features, diagnostic procedures, and frequency of specific genotypes in Italian patients are presented.

Entities:  

Mesh:

Year:  2001        PMID: 11794486     DOI: 10.1007/s100720100042

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  5 in total

1.  Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China.

Authors:  Minjin Wang; Shuo Guo; Wencong Yao; Jun Wang; Jianxia Tao; Yanbing Zhou; Binwu Ying
Journal:  Neurosci Bull       Date:  2018-06-25       Impact factor: 5.203

2.  Frataxin, iron-sulfur clusters, heme, ROS, and aging.

Authors:  Eleonora Napoli; Franco Taroni; Gino A Cortopassi
Journal:  Antioxid Redox Signal       Date:  2006 Mar-Apr       Impact factor: 8.401

3.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

4.  Past, present and future therapeutics for cerebellar ataxias.

Authors:  D Marmolino; M Manto
Journal:  Curr Neuropharmacol       Date:  2010-03       Impact factor: 7.363

5.  Translating principles of neural plasticity into research on speech motor control recovery and rehabilitation.

Authors:  Christy L Ludlow; Jeannette Hoit; Raymond Kent; Lorraine O Ramig; Rahul Shrivastav; Edythe Strand; Kathryn Yorkston; Christine M Sapienza
Journal:  J Speech Lang Hear Res       Date:  2008-02       Impact factor: 2.297

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.