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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Bibliographic Details
Published in:	Clinical neurology and neurosurgery Vol. 201; p. 106456
Main Authors:	Tachi, Kisaki, Takata, Tadayuki, Kume, Kodai, Sone, Jun, Kobara, Hideki, Deguchi, Kazushi, Kawakami, Hideshi, Masaki, Tsutomu
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 01-02-2021 Elsevier Limited
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 Diffusion-weighted imaging GGC repeat expansion Magnetic resonance imaging Neuronal intranuclear inclusion disease NOTCH2NLC
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Description
Summary:	•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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2020.106456