Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

Acta Neuropathologica Communications
Hui Luo1, Emil K. Gustavsson2,3, Hannah Macpherson2, Natalia Dominik1, Kristina Zhelcheska1, Kylie Montgomery2,3, Charles L. Anderson2,3, Wai Yan Yau4, Stéphanie Efthymiou1, Chris Turner5, Michael DeTure6, Dennis W. Dickson6, Keith A. Josephs7, Tamás Révész8, Tammaryn Lashley8, Glenda M. Halliday9, Dominic B. Rowe10, Emily McCann10, Ian P. Blair10, Andrew J. Lees8, Pentti J. Tienari11, Anu Suomalainen12, Laura Molina‐Porcel13,14, Gábor G. Kovács15, Ellen Gelpí16, John Hardy17, Matti Haltia18, Arianna Tucci19, Zane Jaunmuktane8, Mina Ryten2,3, Henry Houlden1, Zhongbo Chen3
1Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK
2Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK
3NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK
4The Perron Institute for Neurological and Translational Science, Perth, Australia
5The National Hospital for Neurology and Neurosurgery, London, UK
6Department of Neuroscience, Mayo Clinic, Jacksonville, USA
7Neurodegenerative Research Group, Mayo Clinic, Rochester, USA
8Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK
9Neuroscience Research Australia, Sydney, Australia
10Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia
11Department of Neurology, Helsinki University Hospital, Helsinki, Finland
12Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, 00290, Helsinki, Finland
13Neurological Tissue Bank of the Hospital Clinic-IFRCB-IDIBAPS-Biobank, Barcelona, Spain
14Alzheimer’s Disease and Other Cognitive Disorders Unit. Neurology Service, Hospital ClínicFundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomediques August Pi I Sunyer (FRCB-IDIBAPS), University of Barcelona, Barcelona, Spain
15Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Canada
16Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria
17Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London, UK
18Department of Pathology, Faculty of Medicine, University of Helsinki, Helsinki, Finland
19William Harvey Research Institute, Queen Mary University of London, London, UK

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Tài liệu tham khảo

Park H, Yamanaka T, Toyama Y, Fujita A, Nirasawa T, Murayama S et al (2022) Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions. Acta Neuropathol Commun 10(1):1–17

Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139(12):3170–3186

Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51(8):1215–1221

Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K et al (2019) Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature Genet 51(8):1222–1232

Liufu T, Zheng Y, Yu J, Yuan Y, Wang Z, Deng J et al (2022) The polyG diseases: a new disease entity. Acta Neuropathol Commun 10(1):79

Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B et al (2021) Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron 109(11):1825–35.e5

Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, GaglianoTaliun SA et al (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol 7(9):1716–1725

Haltia M, Somer H, Palo J, Johnson WG (1984) Neuronal intranuclear inclusion disease in identical twins. Ann Neurol 15(4):316–321

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434–443

Aguet F, Brown AA, Castel SE, Davis JR, He Y, Jo B et al (2017) Genetic effects on gene expression across human tissues. Nature 550(7675):204–213

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