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Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy

24 Nov 2020

Abstract excerpt

Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical phenotypes caused by the intronic repeat expansion of NOTCH2NLC .1,2 An acute encephalopathic episode can manifest in some patients with NIID.3,4 Herein, we report an NIID patient harboring a de novo {(GGA)n(GGC)n}n repeat expansion in NOTCH2NLC , who developed abrupt mitochondrial encephalomyopathy, lactic acidosis, and stroke-like...

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PMID: 33324757
DOI: 10.1212/nxg.0000000000000531

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