Literature DB >> 21827913

Spinocerebellar ataxia 13 and 25.

Giovanni Stevanin1, Alexandra Dürr.   

Abstract

Spinocerebellar ataxia (SCA) types 13 and 25 are two genetic entities among the autosomal dominant cerebellar ataxias, initially mapped in two French families to chromosomes 19q and 2p, respectively. The SCA13 locus was confirmed by the identification of a second kindred of Filipino ancestry. SCA13 patients have cerebellar ataxia of adult onset, or of early onset when associated with mental impairment. SCA25 patients present with cerebellar ataxia with sensory neuropathy and frequent gastrointestinal features. While the gene responsible for SCA25 is still unknown, missense mutations affecting the potassium channel KCNC3 function have been identified. 2012 Elsevier B.V. All rights reserved.

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Year:  2012        PMID: 21827913     DOI: 10.1016/B978-0-444-51892-7.00035-8

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN: 0072-9752


  5 in total

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Authors:  Mukesh Kapoor; Glen Greenough
Journal:  J Clin Sleep Med       Date:  2015-01-15       Impact factor: 4.062

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

3.  Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.

Authors:  Kazuhiko Namikawa; Alessandro Dorigo; Marta Zagrebelsky; Giulio Russo; Toni Kirmann; Wieland Fahr; Stefan Dübel; Martin Korte; Reinhard W Köster
Journal:  J Neurosci       Date:  2019-03-12       Impact factor: 6.167

4.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847

5.  Deciphering H3K4me3 broad domains associated with gene-regulatory networks and conserved epigenomic landscapes in the human brain.

Authors:  A Dincer; D P Gavin; K Xu; B Zhang; J T Dudley; E E Schadt; S Akbarian
Journal:  Transl Psychiatry       Date:  2015-11-17       Impact factor: 6.222

  5 in total

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