Literature DB >> 16135769

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

M F Waters1, D Fee, K P Figueroa, D Nolte, U Müller, J Advincula, H Coon, V G Evidente, S M Pulst.   

Abstract

The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.

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Year:  2005        PMID： 16135769     DOI： 10.1212/01.wnl.0000177490.05162.41

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


  15 in total

Review 1.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

2.  The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).

Authors:  Emma D Burdekin; Brent L Fogel; Shafali S Jeste; Julian Martinez; Jessica E Rexach; Charlotte DiStefano; Carly Hyde; Tabitha Safari; Rujuta B Wilson
Journal:  J Child Neurol       Date:  2020-07-24       Impact factor: 1.987

3.  Rescue of motor coordination by Purkinje cell-targeted restoration of Kv3.3 channels in Kcnc3-null mice requires Kcnc1.

Authors:  Edward C Hurlock; Mitali Bose; Ganon Pierce; Rolf H Joho
Journal:  J Neurosci       Date:  2009-12-16       Impact factor: 6.167

4.  KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

Authors:  Karla P Figueroa; Natali A Minassian; Giovanni Stevanin; Michael Waters; Vartan Garibyan; Sylvie Forlani; Adam Strzelczyk; Katrin Bürk; Alexis Brice; Alexandra Dürr; Diane M Papazian; Stefan M Pulst
Journal:  Hum Mutat       Date:  2010-02       Impact factor: 4.878

5.  Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

Authors:  Rehana Basri; Ichiro Yabe; Hiroyuki Soma; Hidenao Sasaki
Journal:  J Hum Genet       Date:  2007-09-05       Impact factor: 3.172

6.  Sca13.

Authors:  M F Waters; S M Pulst
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

7.  Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

Authors:  Karla P Figueroa; Michael F Waters; Vartan Garibyan; Thomas D Bird; Christopher M Gomez; Laura P W Ranum; Natali A Minassian; Diane M Papazian; Stefan M Pulst
Journal:  PLoS One       Date:  2011-03-29       Impact factor: 3.240

Review 8.  Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Authors:  Nathaniel Robb Whaley; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2011-05-28       Impact factor: 4.123

9.  Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

Authors:  John C Middlebrooks; Harry S Nick; S H Subramony; Joel Advincula; Raymond L Rosales; Lillian V Lee; Tetsuo Ashizawa; Michael F Waters
Journal:  PLoS One       Date:  2013-10-07       Impact factor: 3.240

10.  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
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