Neuronal intranuclear inclusion disease showing blepharoptosis and positive serum anti-acetylcholine receptor antibody without myasthenia gravis

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease, pathologically characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems as well as in visceral organs [1,2]. Clinically, NIID presents with various neurological manifestations, including dementia, autonomic impairment, peripheral neuropathies, abnormal behavior, and disturbed consciousness [1]. Magnetic resonance imaging (MRI) findings are characteristic, showing high-intensity signals along the corticomedullary junction on diffusion-weighted images (DWI) [2].

Source: Journal of the Neurological Sciences - March 15, 2019 Category: Neurology Authors: Koji Hayashi, Tsuyoshi Hamaguchi, Kenji Sakai, Keiko Nakamura, Koichi Wakabayashi, Hiroe Shirasaki, Masahito Yamada Tags: Letter to the Editor Source Type: research