Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

2014236 citationsJournal Articlegreen Open Access

Authors

Brent L. Fogel · University of California, Los Angeles

Hane Lee · University of California, Los Angeles

Joshua L. Deignan · University of California, Los Angeles

Samuel P. Strom · University of California, Los Angeles

Sibel Kantarci · University of California, Los Angeles

Xizhe Wang · University of California, Los Angeles

Fabiola Quintero‐Rivera

Abstract

This study demonstrated that clinical exome sequencing in patients with adult-onset and sporadic presentations of ataxia is a high-yield test, providing a definitive diagnosis in more than one-fifth of patients and suggesting a potential diagnosis in more than one-third to guide additional phenotyping and diagnostic evaluation. Therefore, clinical exome sequencing is an appropriate consideration in the routine genetic evaluation of all patients presenting with chronic progressive cerebellar ataxia.

Topics & Keywords

Genetic Neurodegenerative Diseases Mitochondrial Function and Pathology Genomics and Rare Diseases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: JAMA Neurology

Volume 71, Issue 10, pp. 1237-1237

DOI: 10.1001/jamaneurol.2014.1944

Field-Weighted Citation Impact: 10.73