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Article

Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2023

Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Dozono Mika, Hobara Takahiro, Kojima Fumikazu, Noguchi Yutaka, Takeuchi Mika, Takei Jun, Hiramatsu Yu, Nozuma Satoshi, Nakamura Tomonori, Sakiyama Yusuke, Hashiguchi Akihiro, Matsuura Eiji, Okamoto Yuji, Sone Jun, Takashima Hiroshi

Abstract excerpt

BACKGROUND: NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of...

Topics

Charcot-Marie-Tooth Disease
Intranuclear Inclusion Bodies
Peripheral Nervous System Diseases
Primary Dysautonomias
Phenotype
Japan
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36948577
DOI: 10.1136/jnnp-2022-330769

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