Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders. We report a 20-year-old man with episodic weakness and axonal sensorimotor neuropathy since the a...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-11-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664621005362 |
| _version_ | 1797995836051816448 |
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| author | Tzu-Hsuan Su Ni-Chung Lee Chao-Szu Wu Steven Shinn-Forng Peng Pi-Chuan Fan |
| author_facet | Tzu-Hsuan Su Ni-Chung Lee Chao-Szu Wu Steven Shinn-Forng Peng Pi-Chuan Fan |
| author_sort | Tzu-Hsuan Su |
| collection | DOAJ |
| description | Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders. We report a 20-year-old man with episodic weakness and axonal sensorimotor neuropathy since the age of 10 years. Analysis of the next generation sequencing data of the entire mitochondrial genome extracted from the blood revealed a homoplasmic m.9185T > C variant in MT-ATP6. Acetazolamide may be responsive for episodic weakness, and supplements with l-carnitine with coenzyme-Q10 seem to be beneficial as well. To the best of our knowledge, this is the first report in Taiwan which reveals episodic weakness and sensorimotor polyneuropathy as a unique phenotype of MT-ATP6 mutations. |
| first_indexed | 2024-04-11T10:08:00Z |
| format | Article |
| id | doaj.art-0591f6e481814ef6a172aa277306b63a |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-04-11T10:08:00Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-0591f6e481814ef6a172aa277306b63a2022-12-22T04:30:10ZengElsevierJournal of the Formosan Medical Association0929-66462022-11-011211123452350Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutationTzu-Hsuan Su0Ni-Chung Lee1Chao-Szu Wu2Steven Shinn-Forng Peng3Pi-Chuan Fan4Department of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Radiology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Corresponding author. Department of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan S. Rd., Zhongzheng Dist., Taipei City 100226, Taiwan.Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders. We report a 20-year-old man with episodic weakness and axonal sensorimotor neuropathy since the age of 10 years. Analysis of the next generation sequencing data of the entire mitochondrial genome extracted from the blood revealed a homoplasmic m.9185T > C variant in MT-ATP6. Acetazolamide may be responsive for episodic weakness, and supplements with l-carnitine with coenzyme-Q10 seem to be beneficial as well. To the best of our knowledge, this is the first report in Taiwan which reveals episodic weakness and sensorimotor polyneuropathy as a unique phenotype of MT-ATP6 mutations.http://www.sciencedirect.com/science/article/pii/S0929664621005362Episodic weaknessMitochondrial disordersMT-ATP6 mutations |
| spellingShingle | Tzu-Hsuan Su Ni-Chung Lee Chao-Szu Wu Steven Shinn-Forng Peng Pi-Chuan Fan Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation Journal of the Formosan Medical Association Episodic weakness Mitochondrial disorders MT-ATP6 mutations |
| title | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation |
| title_full | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation |
| title_fullStr | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation |
| title_full_unstemmed | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation |
| title_short | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation |
| title_sort | episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial mt atp6 mutation |
| topic | Episodic weakness Mitochondrial disorders MT-ATP6 mutations |
| url | http://www.sciencedirect.com/science/article/pii/S0929664621005362 |
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