Neuromitochondrial Disorders: Genomic Basis and an Algorithmic Approach to Imaging Diagnostics

Mitochondrial disorders have been an enigma for a long time due to the varied clinical presentations. Although a genetic confirmation will be mandatory most of the time, half the number of Leigh syndrome would be negative for genetic mutations. There are a growing number of mutations in clinical pra...

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Bibliographic Details
Published in:Clinical neuroradiology (Munich) 2021-09, Vol.31 (3), p.559-574
Main Authors: Senthilvelan, Santhakumar, Sekar, Sabarish S., Kesavadas, Chandrasekharan, Thomas, Bejoy
Format: Article
Language:English
Subjects:
Medicine
Medicine & Public Health
Neurology
Neuroradiology
Neurosurgery
Review Article
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Summary:Mitochondrial disorders have been an enigma for a long time due to the varied clinical presentations. Although a genetic confirmation will be mandatory most of the time, half the number of Leigh syndrome would be negative for genetic mutations. There are a growing number of mutations in clinical practice, which escape detection on routine clinical exome sequencing. Imaging would render help in pointing towards a mitochondrial disorder. There are a few case reports which brief about specific mitochondrial mutations and their specific imaging appearance. This article tries to provide a comprehensive review on the imaging-genomic correlation of mitochondrial disorders with an objective of performing a specific genetic testing to arrive at an accurate diagnosis.
ISSN:1869-1439
1869-1447
DOI:10.1007/s00062-021-01030-4