TY - JOUR
T1 - Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1
AU - Tacik, Pawel
AU - Guthrie, Kimberly J.
AU - Strongosky, Audrey J.
AU - Broderick, Daniel F.
AU - Riegert-Johnson, Douglas L.
AU - Tang, Sha
AU - El-Khechen, Dima
AU - Parker, Alexander S.
AU - Ross, Owen A.
AU - Wszolek, Zbigniew K.
N1 - Publisher Copyright:
© 2015 Mayo Foundation for Medical Education and Research
PY - 2015/3
Y1 - 2015/3
N2 - Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the “diagnostic odyssey” cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.
AB - Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the “diagnostic odyssey” cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.
UR - http://www.scopus.com/inward/record.url?scp=84961290935&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84961290935&partnerID=8YFLogxK
U2 - 10.1016/j.mayocp.2015.01.001
DO - 10.1016/j.mayocp.2015.01.001
M3 - Article
C2 - 25659636
AN - SCOPUS:84961290935
SN - 0025-6196
VL - 90
SP - 366
EP - 371
JO - Mayo Clinic proceedings
JF - Mayo Clinic proceedings
IS - 3
ER -