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 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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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.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2020.106456