Top

Published in:

01-08-2017 | Commentary

Macroangiopathy is a typical phenotypic manifestation of MELAS

Authors: Josef Finsterer, Sinda Zarrouk-Mahjoub

Published in: Metabolic Brain Disease | Issue 4/2017

Excerpt

With interest we read the article by Zhu et al. about a 54yo male with MELAS due to the mutation m.3243A > G in the tRNA ^(Leu) gene manifesting as short stature, stroke-like episodes (SLEs), and macroangiopathy (Zhu et al. 2017). We have the following comments and concerns. …

Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F (2011) Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab 103:167-70

Finsterer J, Bastovansky A (2015) Dilative arteriopathy and leucencephalopathy as manifestations of a neurometabolic disease. Open Neurol J 9:28-31

Finsterer J, Stöllberger C (2015) Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease. Int J Cardiol 191:15-17

Finsterer J, Zarrouk-Mahjoub S (2016) Mitochondrial vasculopathy. World J Cardiol 26(8):333–339CrossRef

Fujitake J, Mizuta H, Fujii H, Ishikawa Y, Sasamoto K, Goto Y, Nonaka I, Tatsuoka Y (2002) Leber’s hereditary optic neuropathy with intracranial arteriovenous malformation: a case report. Acta Neurol Belg 102:82–86PubMed

Iizuka T, Goto Y, Miyakawa S, Sato M, Wang Z, Suzuki K, Hamada J, Kurata A, Sakai F (2009) Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation. J Neurol Sci 278:35-40

Jacobsen A, Nielsen TH, Nilsson O, Schalén W, Nordström CH (2014) Bedside diagnosis of mitochondrial dysfunction in aneurysmal subarachnoid hemorrhage. Acta Neurol Scand 130:156–163CrossRefPubMed

Kalashnikova LA, Dobrynina LA, Sakharova AV, Chaĭkovskaia RP, Nazarova MA, Mir-Kasimov MF, Patrusheva NL, Patrushev LI, Konovalov RN, Protskiĭ SV (2012) The A3243G mitochondrial DNA mutation in cerebral artery dissections. Zh Nevrol Psikhiatr Im S S Korsakova 112:84-89

Mancuso M, Montano V, Orsucci D, Peverelli L, Caputi L, Gambaro P, Siciliano G, Lamperti C (2016) Mitochondrial m.3243A > G mutation and carotid artery dissection. Mol Genet Metab Rep 9:12-4

Noguchi A, Shoji Y, Matsumori M, Komatsu K, Takada G (2005) Stroke-like episode involving a cerebral artery in a patient with MELAS. Pediatr Neurol 33:70-1

Ryther RC, Cho-Park YA, Lee JW (2011) Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neurol 258:912-4

Sakharova AV, Kalashnikova LA, Chaĭkovskaia RP, Mir-Kasimov MF, Nazarova MA, Pykhtina TN, Dobrynina LA, Patrusheva NL, Patrushev LI, Protskiĭ SV (2012) Morphological signs of mitochondrial cytopathy in skeletal muscles and micro-vessel walls in a patient with cerebral artery dissection associated with MELAS syndrome. Arkh Patol 74:51-6

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA (2015) The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. Neuromuscul Disord 25:333–339CrossRefPubMed

Tay SH, Nordli DR, Bonilla E, Null E, Monaco S, Hirano M, DiMauro S (2006) Aortic rupture in itochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol 63:281-3

Yoshida T, Ouchi A, Miura D, Shimoji K, Kinjo K, Sueyoshi T, Jonosono M, Rajput V (2013) MELAS and reversible vasoconstriction of the major cerebral arteries. Intern Med 52:1389–1392

Zhu K, Li S, Chen H, Wang Y, Yu M, Wang H, Zhao W, Cao Y. (2017) Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation. Metab Brain Dis 21. doi:10.1007/s11011-017-9989-0

Title: Macroangiopathy is a typical phenotypic manifestation of MELAS
Authors: Josef Finsterer
Sinda Zarrouk-Mahjoub
Publication date: 01-08-2017
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 4/2017
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0020-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Macroangiopathy is a typical phenotypic manifestation of MELAS

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 4/2017

Effect of magnolol on cerebral injury and blood brain barrier dysfunction induced by ischemia-reperfusion in vivo and in vitro

Curcumin reverses the depressive-like behavior and insulin resistance induced by chronic mild stress

Antioxidant effects of rice bran oil mitigate repeated haloperidol-induced tardive dyskinesia in male rats

Post 6-OHDA lesion exposure to stress affects neurotrophic factor expression and aggravates motor impairment

The analgesic effect of trans-resveratrol is regulated by calcium channels in the hippocampus of mice

The pattern of thalamocortical and brain stem projections to the vibrissae–related sensory and motor cortices in de-whiskered congenital hypothyroid rats