NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.

Humans Gliosis / pathology Intranuclear Inclusion Bodies / pathology Neurodegenerative Diseases / pathology Retina / pathology Receptor, Notch2 / genetics
Diffusion weighted image GGC repeat Gliosis Leukoencephalopathy NOTCH2NLC Neuronal intranuclear inclusion disease Retinal pathology Retinitis Pigmentosa p-62

Journal

Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673

Informations de publication

Date de publication:
02 05 2023
Historique:
received: 19 02 2023
accepted: 10 04 2023
medline: 4 5 2023
pubmed: 3 5 2023
entrez: 2 5 2023
Statut: epublish

Résumé

The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and NOTCH2NLC GGC repeat analysis. Ocular findings in patients with NIID were studied using fundus photographs, optical coherence tomographic images (OCT), and full-field electroretinograms (ERGs). The histopathology of the retina was studied on autopsy samples from two cases with immunohistochemistry. All patients had an expansion of the GGC repeat (87-134 repeats) in the NOTCH2NLC. Two patients were legally blind and had been diagnosed with retinitis pigmentosa prior to the diagnosis of NIID and assessed with whole exome sequencing to rule out comorbidity with other retinal diseases. Fundus photographs around the posterior pole showed chorioretinal atrophy in the peripapillary regions. OCT showed thinning of the retina. ERGs showed various abnormalities in cases. The histopathology of autopsy samples showed diffusely scattered intranuclear inclusions throughout the retina from the retinal pigment epithelium to the ganglion cell layer, and optic nerve glial cells. And severe gliosis was observed in retina and optic nerve. The NOTCH2NLC GGC repeat expansion causes numerous intranuclear inclusions in the retina and optic nerve cells and gliosis. Visual dysfunction could be the first sign of NIID. We should consider NIID as one of the causes of retinal dystrophy and investigate the GGC repeat expansion in NOTCH2NLC.

Identifiants

DOI: 10.1186/s40478-023-01564-3 PMID: 37131242 PMC: PMC10152767
pubmed: 37131242
doi: 10.1186/s40478-023-01564-3
pii: 10.1186/s40478-023-01564-3
pmc: PMC10152767
doi:

Substances chimiques

NOTCH2 protein, human 0
Receptor, Notch2 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

71

Informations de copyright

© 2023. The Author(s).

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Auteurs

Jun Sone (J)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan. jsone@aichi-med-u.ac.jp.
Department of Neurology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan. jsone@aichi-med-u.ac.jp.
Department of Neurology, National Hospital Organization Suzuka National Hospital, 3-2-1, Kasado, Suzuka, Mie, 513-8501, Japan. jsone@aichi-med-u.ac.jp.
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan. jsone@aichi-med-u.ac.jp.
ORCID: 0000-0002-9057-7609

Shinji Ueno (S)

Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
Department of Ophthalmology, Hirosaki University Graduate School of Medicine, 5 Zaifu, Hirosaki, Aomori, 036-8562, Japan.

Akio Akagi (A)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Hiroaki Miyahara (H)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Chisato Tamai (C)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Yuichi Riku (Y)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.

Hiroyuki Yabata (H)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Department of Neurology, Shiga University of Medical Science. Seta-Tsukinowa, Otsu, 520-2192, Japan.

Ryuichi Koizumi (R)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 22-2 Seto, Kanazawa-Ku, Yokohama, Kanagawa, 236-0027, Japan.

Tomohiro Hattori (T)

Department of Ophthalmology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.

Hiroshi Hirose (H)

Department of Ophthalmology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.

Yoshito Koyanagi (Y)

Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
Department of Ophthalmology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.

Rei Kobayashi (R)

Department of Neurology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.

Hisashi Okada (H)

Department of Neurology, National Hospital Organization Nagoya Medical Center, 4-1-1, Sannomaru, Naka-Ku, Nagoya, Aichi, 460-0001, Japan.

Yoshiyuki Kishimoto (Y)

Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.

Yoshio Hashizume (Y)

Department of Neuropathology, Choju Medical Institute, Fukushimura Hospital, 19-14, Yamanaka, Noyori, Toyohashi, Aichi, 441-8124, Japan.

Gen Sobue (G)

Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-Ku, Nagoya, Aichi, 466-8560, Japan.
Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Mari Yoshida (M)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Yasushi Iwasaki (Y)

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › NOTCH2NLC GGC repeat expansion causes retinal...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Gliose › NOTCH2NLC GGC repeat expansion causes retinal...
questionsmedicales.fr › Cellules › Structures cellulaires › Corps d'inclusion › Corps d'inclusion intranucléaire › NOTCH2NLC GGC repeat expansion causes retinal...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › NOTCH2NLC GGC repeat expansion causes retinal...
questionsmedicales.fr › Organes des sens › Oeil › Rétine › NOTCH2NLC GGC repeat expansion causes retinal...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Récepteurs Notch › Récepteur Notch2 › NOTCH2NLC GGC repeat expansion causes retinal...