Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease

•We present a case of neuronal intranuclear inclusion disease.•The patient had an abnormal GGC repeat expansion in NOTCH2NL.•Diffusion-weighted imaging lesions are not always present in this disease.•Diffusion-weighted imaging lesions were observed from appearance to disappearance.

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Published in:Clinical neurology and neurosurgery 2021-02, Vol.201, p.106456-106456, Article 106456
Main Authors: Tachi, Kisaki, Takata, Tadayuki, Kume, Kodai, Sone, Jun, Kobara, Hideki, Deguchi, Kazushi, Kawakami, Hideshi, Masaki, Tsutomu
Format: Article
Language:English
Subjects:
Antiepileptic agents
Ataxia
Biomarkers
Consciousness
Cytomegalovirus
Dementia
Diffusion-weighted imaging
Drug therapy
Epilepsy
Etiology
GGC repeat expansion
Gliosis
Magnetic resonance imaging
Neurology
Neuronal intranuclear inclusion disease
NOTCH2NLC
Scintigraphy
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cited_by cdi_FETCH-LOGICAL-c462t-fe4b425f1566a96f520591855462d624e943626dcdbe156d9bfc40e2cd1cab3e3
cites cdi_FETCH-LOGICAL-c462t-fe4b425f1566a96f520591855462d624e943626dcdbe156d9bfc40e2cd1cab3e3
container_end_page 106456
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container_start_page 106456
container_title Clinical neurology and neurosurgery
container_volume 201
creator Tachi, Kisaki
Takata, Tadayuki
Kume, Kodai
Sone, Jun
Kobara, Hideki
Deguchi, Kazushi
Kawakami, Hideshi
Masaki, Tsutomu
description •We present a case of neuronal intranuclear inclusion disease.•The patient had an abnormal GGC repeat expansion in NOTCH2NL.•Diffusion-weighted imaging lesions are not always present in this disease.•Diffusion-weighted imaging lesions were observed from appearance to disappearance.
doi_str_mv 10.1016/j.clineuro.2020.106456
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source ScienceDirect Journals
subjects Antiepileptic agents
Ataxia
Biomarkers
Consciousness
Cytomegalovirus
Dementia
Diffusion-weighted imaging
Drug therapy
Epilepsy
Etiology
GGC repeat expansion
Gliosis
Magnetic resonance imaging
Neurology
Neuronal intranuclear inclusion disease
NOTCH2NLC
Scintigraphy
title Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease
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