Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India
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- 作者：Parayil Sankaran Bindua ; Hanumanthapura Arvindab ; Arun B. Talya ; abtaly@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Chikanna Govindarajua ; Kothari Sonamc ; Shwetha Chiplunkarc ; Rakesh Kumara ; Narayanappa Gayathrid ; Srinivas Bharath MMe ; Madhu Nagappaa ; Sanjib Sinhaa ; Nahid Akthar Khanf ; Periyasamy Govindarajf ; Vandana Nuniaf ; Arumugam Paramasivamf ; Kumarasamy Thangarajf
- 关键词：Mitochondrial disorders ; MRI ; m.3243A ; > ; ; G ; SURF1 ; POLG1 ; MELAS ; Stroke like lesions
- 刊名：Mitochondrion
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：25
- 期：Complete
- 页码：6-16
- 全文大小：1033 K
文摘
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Brain MRI findings in 33 patients with mitochondrial disorders were reviewed.
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Patients were grouped into those with mutations in mitochondrial DNA, SURF1 & POLG1.
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Patients with mitochondrial mutations had more atrophic changes, cortical lesions and basal ganglia mineralization
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All SURF1 patients had Leighs syndrome. No consistent pattern emerged in the POLG1 group.
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The study confirms the heterogenous MRI findings in mitochondrial disorders.