Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying <i>NOTCH2NLC</i> Repeat Expansion

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying <i>NOTCH2NLC</i> Repeat Expansion

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in <i>NOTCH2NLC</i>. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship b...

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Bibliographic Details
Main Authors: Yusran Ady Fitrah, Yo Higuchi, Norikazu Hara, Takayoshi Tokutake, Masato Kanazawa, Kazuhiro Sanpei, Tomone Taneda, Akihiko Nakajima, Shin Koide, Shintaro Tsuboguchi, Midori Watanabe, Junki Fukumoto, Shoichiro Ando, Tomoe Sato, Yohei Iwafuchi, Aki Sato, Hideki Hayashi, Takanobu Ishiguro, Hayato Takeda, Toshiaki Takahashi, Nobuyoshi Fukuhara, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Brain Sciences
Subjects:
neuronal intranuclear inclusion disease
GGC repeat expansion
<i>NOTCH2NLC</i>
clinical presentations
neuroimaging
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2076-3425/13/6/955

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https://www.mdpi.com/2076-3425/13/6/955

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