We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
The variant m.3482A>G in MT‐ND1 is benign and not responsible for MELAS/Leigh overlap syndrome.
- Authors
Finsterer, Josef
- Abstract
The variant m.3482A>G in MT-ND1 is benign and not responsible for MELAS/Leigh overlap syndrome With interest we read the article by Hayashi I et al i . about a 41-year-old woman diagnosed upon clinical presentation with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS)/Leigh overlap syndrome and the variant m.3482A>G in I MT-ND1 i , described as novel and considered to be pathogenic.1 MELAS manifested phenotypically with recurrent stroke-like episodes (SLEs) from the age of 16 years, akinetic mutism, impaired hearing, and myopathy.1 Postmortem investigations revealed postischemic changes of the cerebral cortex, bilateral necrosis of the striatum and the midbrain, and calcification of the basal ganglia.1 We have the following comments and concerns. MELAS and Leigh syndrome are multisystem diseases, either already at onset or become multisystem conditions with progression of the disease.
- Subjects
MAGNETIC resonance imaging; ISCHEMIC stroke; SYNDROMES; MELAS syndrome; DIAGNOSIS
- Publication
Neuropathology, 2021, Vol 41, Issue 3, p250
- ISSN
0919-6544
- Publication type
Article
- DOI
10.1111/neup.12726