[HTML][HTML] Clinical and mechanism advances of neuronal intranuclear inclusion disease

Y Liu, H Li, X Liu, B Wang, H Yang, B Wan… - Frontiers in Aging …, 2022 - frontiersin.org
Due to the high clinical heterogeneity of neuronal intranuclear inclusion disease (NIID), it is
easy to misdiagnose this condition and is considered to be a rare progressive …

[HTML][HTML] Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and …

H Ishiura, S Tsuji, T Toda - Journal of Human Genetics, 2023 - nature.com
While whole genome sequencing and long-read sequencing have become widely available,
more and more focuses are on noncoding expanded repeats. Indeed, more than half of …

[PDF][PDF] A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years

S Okamura, M Takahashi, K Abe, A Inaba, J Sone… - Heliyon, 2020 - cell.com
Neuronal intranuclear inclusion disease (NIID) is a rare, neurodegenerative disorder
characterized by the presence of eosinophilic hyaline intranuclear inclusions, which are …

[HTML][HTML] Prevalence of fragile X-associated tremor/ataxia syndrome in patients with cerebellar ataxia in Japan

Y Higuchi, M Ando, A Yoshimura, S Hakotani, Y Koba… - The Cerebellum, 2021 - Springer
The presence of fragile X mental retardation 1 (FMR1) premutation has been linked to
patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia …

[HTML][HTML] A case report of sporadic adult neuronal intranuclear inclusion disease (NIID) with stroke-like onset

P Lin, H Jin, KC Yi, XS He, SF Lin, G Wu… - Frontiers in …, 2020 - frontiersin.org
Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative
disease. The clinical manifestations of NIID are complex and easily misdiagnosed. Based on …

[HTML][HTML] Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case

A Sugiyama, T Takeda, M Koide, H Yokota, H Mukai… - BMC neurology, 2021 - Springer
Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative
disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in …

Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images

WY Yu, Z Xu, HY Lee, A Tokumaru, JMM Tan, A Ng… - Neuroradiology, 2019 - Springer
Purpose Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare
neurodegenerative disorder described mainly in the Japanese population, with …

NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome

ASL Ng, Z Xu, Z Chen, YJ Tan, WK Lim, SKS Ting… - Brain, 2020 - academic.oup.com
We read with interest two separate reports in Brain (Sone et al., 2016; Sun et al., 2020) on
neuronal intranuclear inclusion body disease (NIID), a neurodegenerative disease …

[HTML][HTML] Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

Y Huang, G Jin, Q Zhan, Y Tian, L Shen - BMC neurology, 2021 - Springer
Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease,
the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical …

Diffusion-weighted imaging is key to diagnosing specific diseases

AM Tokumaru, Y Saito, S Murayma - … Resonance Imaging Clinics, 2021 - mri.theclinics.com
Diffusion-weighted imaging (DWI) is an magnetic resonance (MR) imaging method that is an
indispensable part of the examination. It has wellestablished roles in the detection of acute …