Parayil Sankaran Bindu1, Hanumanthapura Arvinda2, Arun B Taly3, Chikanna Govindaraju1, Kothari Sonam4, Shwetha Chiplunkar4, Rakesh Kumar1, Narayanappa Gayathri5, Srinivas Bharath Mm6, Madhu Nagappa1, Sanjib Sinha1, Nahid Akthar Khan7, Periyasamy Govindaraj7, Vandana Nunia7, Arumugam Paramasivam7, Kumarasamy Thangaraj7. 1. Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. 2. Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. 3. Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: abtaly@yahoo.com. 4. Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. 5. Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. 6. Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. 7. Centre for Scientific and Industrial Research-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, India.
Abstract
BACKGROUND: Large studies analyzing magnetic resonance imaging correlates in different genotypes of mitochondrial disorders are far and few. This study sought to analyze the pattern of magnetic resonance imaging findings in a cohort of genetically characterized patients with mitochondrial disorders. METHODS: The study cohort included 33 patients (age range 18 months-50 years, M:F - 0.9:1) with definite mitochondrial disorders seen over a period of 8 yrs. (2006-2013). Their MR imaging findings were analyzed retrospectively. RESULTS: The patients were classified into three groups according to the genotype, Mitochondrial point mutations and deletions (n=21), SURF1 mutations (n=7) and POLG1 (n=5). The major findings included cerebellar atrophy (51.4%), cerebral atrophy (24.2%), signal changes in basal ganglia (45.7%), brainstem (34.2%) & white matter (18.1%) and stroke like lesions (25.7%). Spinal cord imaging showed signal changes in 4/6 patients. Analysis of the special sequences revealed, basal ganglia mineralization (7/22), lactate peak on magnetic resonance spectrometry (10/15), and diffusion restriction (6/22). Follow-up images in six patients showed that the findings are dynamic. Comparison of the magnetic resonance imaging findings in the three groups showed that cerebral atrophy and cerebellar atrophy, cortical signal changes and basal ganglia mineralization were seen mostly in patients with mitochondrial mutation. Brainstem signal changes with or without striatal lesions were characteristically noted in SURF1 group. There was no consistent imaging pattern in POLG1 group. CONCLUSION: Magnetic resonance imaging findings in mitochondrial disorders are heterogeneous. Definite differences were noted in the frequency of anatomical involvement in the three groups. Familiarity with the imaging findings in different genotypes of mitochondrial disorders along with careful analysis of the family history, clinical presentation, biochemical findings, histochemical and structural analysis will help the physician for targeted metabolic and genetic testing.
BACKGROUND: Large studies analyzing magnetic resonance imaging correlates in different genotypes of mitochondrial disorders are far and few. This study sought to analyze the pattern of magnetic resonance imaging findings in a cohort of genetically characterized patients with mitochondrial disorders. METHODS: The study cohort included 33 patients (age range 18 months-50 years, M:F - 0.9:1) with definite mitochondrial disorders seen over a period of 8 yrs. (2006-2013). Their MR imaging findings were analyzed retrospectively. RESULTS: The patients were classified into three groups according to the genotype, Mitochondrial point mutations and deletions (n=21), SURF1 mutations (n=7) and POLG1 (n=5). The major findings included cerebellar atrophy (51.4%), cerebral atrophy (24.2%), signal changes in basal ganglia (45.7%), brainstem (34.2%) & white matter (18.1%) and stroke like lesions (25.7%). Spinal cord imaging showed signal changes in 4/6 patients. Analysis of the special sequences revealed, basal ganglia mineralization (7/22), lactate peak on magnetic resonance spectrometry (10/15), and diffusion restriction (6/22). Follow-up images in six patients showed that the findings are dynamic. Comparison of the magnetic resonance imaging findings in the three groups showed that cerebral atrophy and cerebellar atrophy, cortical signal changes and basal ganglia mineralization were seen mostly in patients with mitochondrial mutation. Brainstem signal changes with or without striatal lesions were characteristically noted in SURF1 group. There was no consistent imaging pattern in POLG1 group. CONCLUSION: Magnetic resonance imaging findings in mitochondrial disorders are heterogeneous. Definite differences were noted in the frequency of anatomical involvement in the three groups. Familiarity with the imaging findings in different genotypes of mitochondrial disorders along with careful analysis of the family history, clinical presentation, biochemical findings, histochemical and structural analysis will help the physician for targeted metabolic and genetic testing.
Authors: Hosneara Akter; Mohammad Shahnoor Hossain; Nushrat Jahan Dity; Md Atikur Rahaman; K M Furkan Uddin; Nasna Nassir; Ghausia Begum; Reem Abdel Hameid; Muhammad Sougatul Islam; Tahrima Arman Tusty; Mohammad Basiruzzaman; Shaoli Sarkar; Mazharul Islam; Sharmin Jahan; Elaine T Lim; Marc Woodbury-Smith; Dimitri James Stavropoulos; Darren D O'Rielly; Bakhrom K Berdeiv; A H M Nurun Nabi; Mohammed Nazmul Ahsan; Stephen W Scherer; Mohammed Uddin Journal: NPJ Genom Med Date: 2021-02-16 Impact factor: 8.617
Authors: C A P F Alves; A Goldstein; S R Teixeira; J S Martin-Saavedra; I P de Barcelos; G Fadda; L Caschera; M Kidd; F G Gonçalves; E M McCormick; M J Falk; Z Zolkipli-Cunningham; A Vossough; G Zuccoli Journal: AJNR Am J Neuroradiol Date: 2020-12-31 Impact factor: 3.825