A Case of Acute Reversible Encephalopathy with Neuronal Intranuclear Inclusion Disease Diagnosed by a Brain Biopsy: Inferring the Mechanism of Encephalopathy from Radiological and Histological Findings-Reference-Cited by-同舟云学术

A Case of Acute Reversible Encephalopathy with Neuronal Intranuclear Inclusion Disease Diagnosed by a Brain Biopsy: Inferring the Mechanism of Encephalopathy from Radiological and Histological Findings

Published:2023 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Orihara Azusa¹,Miyakoshi Natsuki²,Sunami Yoko²,Kimura Hideki²,Nakata Yasuhiro³,Komori Takashi⁴,Sone Jun⁵,Takahashi Kazushi²

Affiliation:

1. Department of General Internal Medicine, Tokyo Metropolitan Tama Medical Center, Japan

2. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan

3. Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Japan

4. Department of Inspection, Tokyo Metropolitan Neurological Hospital, Japan

5. Department of Neurology, Aichi Medical University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_0156-22/_pdf

Reference14 articles.

1. 1. Sone J, Kitagawa N, Sugawara E, et al. Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry 85: 354-356, 2014.

2. 2. Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139: 3170-3186, 2016.

3. 3. Sone J, Mitsuhashi S, Fujita A, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51: 1215-1221, 2019.

4. 4. Ishiura H, Shibata S, Yoshimura J, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 51: 1222-1232, 2019.

5. 5. Tian Y, Wang JL, Huang W, et al. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. Am J Hum Genet 105: 166-176, 2019.

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