Literature DB >> 12432828

Genetic ataxia.

Alberto L Rosa1, Tetsuo Ashizawa.   

Abstract

Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach. Furthermore, the ethical, social, legal and psychological implications of the genetic test results are complex, necessitating appropriate counseling. This article intends to help the practicing neurologist clinically differentiate these disorders, choose appropriate genetic tests, and recognize the importance of counseling.

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Year:  2002        PMID: 12432828     DOI: 10.1016/s0733-8619(02)00008-7

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  2 in total

1.  Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling.

Authors:  V Brook White; Jennifer R Leib; Jennifer M Farmer; Barbara B Biesecker
Journal:  Behav Brain Funct       Date:  2010-10-27       Impact factor: 3.759

2.  Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.

Authors:  Tohru Matsuura; Ping Fang; Xi Lin; Mehrdad Khajavi; Kuniko Tsuji; Astrid Rasmussen; Raji P Grewal; Madhureeta Achari; Maria E Alonso; Stefan M Pulst; Huda Y Zoghbi; David L Nelson; Benjamin B Roa; Tetsuo Ashizawa
Journal:  Am J Hum Genet       Date:  2004-05-04       Impact factor: 11.025

  2 in total

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