Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (3rd January 2023)

• Record Type: Journal Article
• Authors: Davis, Ryan L.; Kumar, Kishore R.; Watson, Eloise C.; Sue, Carolyn M.
• Is Part Of: Neurology. Volume 100:Number 1(2023)
• Page Start: 50
• Page End: 50
• Publication Date: 2023-01-03
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000201677
• Languages: English
• ISSNs: 0028-3878

Abstract

Abstract : We strongly agree with Dr. Schon and Prof. Chinnery that alpha-methylacyl-CoA racemase (AMACR) deficiency should be considered in the differential diagnosis of patients presenting with combinations of stroke-like episodes, seizures, encephalopathy, and retinal pigmentary changes. 1 As described in our study, 1 causative AMACR variants in patients with clinical features suggestive of mitochondrial disease highlight a broader issue of mitochondrial disease phenocopies that require consideration by a comprehensive sequencing approach for suspected mitochondrial disease cases. Examples of this include 3 individuals from 2 families in our study, 1 3 individuals in the 100, 000 Genomes Project, 2 an individual in the study by Theunissen et al, 3 and a recent case of an individual with late-onset disease associated with stroke-like episodes and seizures. 4