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Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions.
J Neurol Sci. 2023 05 15; 448:120618.JN

Abstract

Neuronal intranuclear inclusion disease (NIID) is a clinically complex neurological disorder that appears sporadically or autosomally. Expansions of intronic GGC trinucleotide repeats in the NOTCH2 N-terminal-like C (NOTCH2NLC) gene cause NIID. In this study, to clarify the clinical characteristics useful for the differential diagnosis of NIID, clinical data of neurological examination, neuroimaging, and nerve conduction studies of six NIID patients diagnosed by pathological or genetic investigations were analyzed. Clinically useful characteristics for diagnosing NIID include general hyporeflexia, episodic disturbance of consciousness, sensory disturbance, miosis, and dementia. Furthermore, neuroimaging findings, such as leukoencephalopathy in T2-weighted magnetic resonance imaging and a linear high intensity of subcortical U-fibers in diffusion-weighted imaging (DWI), as well as decreased motor nerve conduction velocity, are especially important biomarkers for NIID. However, it is necessary to remember that these features may not always be present, as shown in one of the cases who did not have a DWI abnormality in this study. This study also investigated whether expanded GGC repeats were translated into polyglycine. Immunohistochemical analysis using a custom antibody raised against putative C-terminal polypeptides followed by polyglycine of uN2CpolyG revealed that polyglycines were localized in the intranuclear inclusions in skin biopsy specimens from all six patients, suggesting its involvement in the pathogenesis of NIID.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan; Department of Neurology, National Hospital Organization Takasaki General Medical Center, Takasaki, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Department of Neurology, Shinozuka Hospital, Fujioka, Japan.

Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan.

Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan. Electronic address: ikeday006@gunma-u.ac.jp.

MeSH

HumansIntranuclear Inclusion BodiesNeurodegenerative DiseasesPeptides

Pub Type(s)

Journal Article

Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

37001413

Citation

Furuta, Minori, et al. "Clinical, Radiological, and Molecular Analyses of Neuronal Intranuclear Inclusion Disease With Polyglycine Inclusions." Journal of the Neurological Sciences, vol. 448, 2023, p. 120618.

Furuta M, Sato M, Kasahara H, et al. Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions. J Neurol Sci. 2023;448:120618.

Furuta, M., Sato, M., Kasahara, H., Tsukagoshi, S., Hirayanagi, K., Fujita, Y., Takai, E., Aihara, Y., Okamoto, K., & Ikeda, Y. (2023). Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions. Journal of the Neurological Sciences, 448, 120618. https://doi.org/10.1016/j.jns.2023.120618

Furuta M, et al. Clinical, Radiological, and Molecular Analyses of Neuronal Intranuclear Inclusion Disease With Polyglycine Inclusions. J Neurol Sci. 2023 05 15;448:120618. PubMed PMID: 37001413.

* Article titles in AMA citation format should be in sentence-case

TY - JOUR T1 - Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions. AU - Furuta,Minori, AU - Sato,Masayuki, AU - Kasahara,Hiroo, AU - Tsukagoshi,Setsuki, AU - Hirayanagi,Kimitoshi, AU - Fujita,Yukio, AU - Takai,Eriko, AU - Aihara,Yuko, AU - Okamoto,Koichi, AU - Ikeda,Yoshio, Y1 - 2023/03/22/ PY - 2023/02/02/received PY - 2023/03/16/revised PY - 2023/03/20/accepted PY - 2023/4/18/medline PY - 2023/4/1/pubmed PY - 2023/3/31/entrez KW - NOTCH2NLC KW - Neuronal intranuclear inclusion disease KW - Polyglycine KW - Trinucleotide repeat expansion SP - 120618 EP - 120618 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 448 N2 - Neuronal intranuclear inclusion disease (NIID) is a clinically complex neurological disorder that appears sporadically or autosomally. Expansions of intronic GGC trinucleotide repeats in the NOTCH2 N-terminal-like C (NOTCH2NLC) gene cause NIID. In this study, to clarify the clinical characteristics useful for the differential diagnosis of NIID, clinical data of neurological examination, neuroimaging, and nerve conduction studies of six NIID patients diagnosed by pathological or genetic investigations were analyzed. Clinically useful characteristics for diagnosing NIID include general hyporeflexia, episodic disturbance of consciousness, sensory disturbance, miosis, and dementia. Furthermore, neuroimaging findings, such as leukoencephalopathy in T2-weighted magnetic resonance imaging and a linear high intensity of subcortical U-fibers in diffusion-weighted imaging (DWI), as well as decreased motor nerve conduction velocity, are especially important biomarkers for NIID. However, it is necessary to remember that these features may not always be present, as shown in one of the cases who did not have a DWI abnormality in this study. This study also investigated whether expanded GGC repeats were translated into polyglycine. Immunohistochemical analysis using a custom antibody raised against putative C-terminal polypeptides followed by polyglycine of uN2CpolyG revealed that polyglycines were localized in the intranuclear inclusions in skin biopsy specimens from all six patients, suggesting its involvement in the pathogenesis of NIID. SN - 1878-5883 UR - https://www.unboundmedicine.com/medline/citation/37001413/Clinical_radiological_and_molecular_analyses_of_neuronal_intranuclear_inclusion_disease_with_polyglycine_inclusions_ DB - PRIME DP - Unbound Medicine ER -