Literature DB >> 33638050

Genetic ataxias: update on classification and diagnostic approaches.

Natalie Witek1, Jacob Hawkins2, Deborah Hall2.   

Abstract

Ataxia encompasses a large group of rare disorders characterized by irregular movements, decreased coordination, imbalance, kinetic tremor, wide-based stance, and dysarthria. Evaluating ataxia can be challenging considering the volume of disorders and their complex pathologies involving diverse genetic and clinical factors. This is a comprehensive review of the genetic ataxia literature, presenting updated guidelines for differential diagnosis. Age, time course, and family history provide initial guidance for evaluation of ataxia. As genetic testing is increasingly utilized, new genes are discovered and phenotypes for existing disorders are expanded. This review assists physicians by offering a diagnostic roadmap for suspected hereditary ataxia based on the current literature.

Entities:  

Keywords:  Ataxia; Autosomal dominant ataxia; Autosomal recessive ataxia; Hereditary ataxia; Sporadic ataxia

Year:  2021        PMID: 33638050     DOI: 10.1007/s11910-021-01092-4

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  2 in total

Review 1.  Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy.

Authors:  Leslie J Roberts; Michael McVeigh; Linda Seiderer; Ian H Harding; Louise A Corben; Martin Delatycki; David J Szmulewicz
Journal:  Neurol Genet       Date:  2022-09-28

2.  Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs.

Authors:  Matthias Christen; Sandra Högler; Miriam Kleiter; Michael Leschnik; Corinna Weber; Denise Thaller; Vidhya Jagannathan; Tosso Leeb
Journal:  PLoS Genet       Date:  2021-08-02       Impact factor: 5.917

  2 in total

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