Literature DB >> 15895562

Spinocerebellar ataxia with sensory neuropathy (SCA25).

Giovanni Stevanin1, Emmanuel Broussolle, Nathalie Streichenberger, Nicolas Kopp, Alexis Brice, Alexandra Durr.   

Abstract

Spinocerebellar ataxia 25 (SCA25) is a rare form of autosomal dominant cerebellar ataxia associated with a severe sensory neuropathy. Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred.

Entities:  

Mesh：

Year:  2005        PMID： 15895562     DOI： 10.1080/14734220510007932

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


  15 in total

Review 1.  Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

Authors:  G Stevanin; A Dürr; A Brice
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

Review 2.  Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.

Authors:  Tohru Matsuura; Tetsuo Ashizawa
Journal:  Adv Exp Med Biol       Date:  2002       Impact factor: 2.622

Review 3.  Why is SCA12 different from other SCAs?

Authors:  S E Holmes; E O'Hearn; R L Margolis
Journal:  Cytogenet Genome Res       Date:  2003       Impact factor: 1.636

4.  Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.

Authors:  G Stevanin; A Durr; C Dussert; C Penet; A Brice
Journal:  Neurology       Date:  2004-09-14       Impact factor: 9.910

5.  Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Authors:  G Stevanin; Y Trottier; G Cancel; A Dürr; G David; O Didierjean; K Bürk; G Imbert; F Saudou; M Abada-Bendib; I Gourfinkel-An; A Benomar; N Abbas; T Klockgether; D Grid; Y Agid; J L Mandel; A Brice
Journal:  Hum Mol Genet       Date:  1996-12       Impact factor: 6.150

6.  Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

Authors:  Zoran Brkanac; Magali Fernandez; Mark Matsushita; Hilary Lipe; John Wolff; Thomas D Bird; Wendy H Raskind
Journal:  Am J Med Genet       Date:  2002-05-08

7.  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

8.  Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.

Authors:  A Dürr; H Chneiweiss; C Khati; G Stevanin; G Cancel; J Feingold; Y Agid; A Brice
Journal:  Brain       Date:  1993-12       Impact factor: 13.501

Review 9.  Pathways to motor incoordination: the inherited ataxias.

Authors:  Franco Taroni; Stefano DiDonato
Journal:  Nat Rev Neurosci       Date:  2004-08       Impact factor: 34.870

Review 10.  Molecular genetics of spinocerebellar ataxia type 8 (SCA8).

Authors:  A K Mosemiller; J C Dalton; J W Day; L P W Ranum
Journal:  Cytogenet Genome Res       Date:  2003       Impact factor: 1.636
View more
  3 in total

1.  The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.

Authors:  Antoni Matilla-Dueñas
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

Review 2.  The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Authors:  Katherine E Hekman; Christopher M Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-18       Impact factor: 10.154

Review 3.  Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.

Authors:  Antoni Matilla-Dueñas; Ivelisse Sánchez; Marc Corral-Juan; Antoni Dávalos; Ramiro Alvarez; Pilar Latorre
Journal:  Cerebellum       Date:  2010-06       Impact factor: 3.847
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.