ArticleActa neuropathologica communications2019
Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.
Article in Acta neuropathologica communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- The contribution of brain banks to knowledge discovery in amyotrophic lateral sclerosis: A systematic review.Neuropathology and applied neurobiology · 2022Pooled it
- Increased neuronal activity restores circadian function in Drosophila models of C9orf72-ALS/FTD.iScience · 2026Article
- Disrupted sleep-wake cycles and circadian rhythms in aFrontiers in neuroscience · 2026Article
- Sleep in neurodegenerative diseases: A focus on melatonin, melanin-concentrating hormone and orexin.Journal of neuroendocrinology · 2025Review
- Use of Common Psychiatric Medications and Risk and Prognosis of Amyotrophic Lateral Sclerosis.JAMA network open · 2025Article
- Association between sleep and ALS-FTSD: A Prospective Cohort Study based on 396,918 UK biobank participants.Translational psychiatry · 2025Article
- Impact of sleep quality on disease progression in early-stage amyotrophic lateral sclerosis.Frontiers in neurology · 2025Article
- Associations of Abnormal Sleep Duration and Chronotype with Higher Risk of Incident Amyotrophic Lateral Sclerosis: A UK Biobank Prospective Cohort Study.Biomedicines · 2024Article
- Regulated cell death and its role in Alzheimer's disease and amyotrophic lateral sclerosis.Acta neuropathologica · 2024Review
- The Effects of poly-GA and poly-PRmicroPublication biology · 2024Article
- Flight to insight: maximizing the potential ofFrontiers in molecular neuroscience · 2024Article
- Proteostasis failure exacerbates neuronal circuit dysfunction and sleep impairments in Alzheimer's disease.Molecular neurodegeneration · 2023Review
- Hypothalamus and amyotrophic lateral sclerosis: potential implications in sleep disorders.Frontiers in aging neuroscience · 2023Review
- Circadian rhythms in neurodegenerative disorders.Nature reviews. Neurology · 2022Review
- Disruption of orbitofrontal-hypothalamic projections in a murine ALS model and in human patients.Translational neurodegeneration · 2021Article
- Pathway from TDP-43-Related Pathology to Neuronal Dysfunction in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.International journal of molecular sciences · 2021Review
- The Molecular Clock and Neurodegenerative Disease: A Stressful Time.Frontiers in molecular biosciences · 2021Review
- Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.Acta neuropathologica · 2020Article
- MicroRNA: A Key Player for the Interplay of Circadian Rhythm Abnormalities, Sleep Disorders and Neurodegenerative Diseases.Clocks & sleep · 2020Review
- Sleep Disturbances as a Potential Risk Factor for Deterioration of Respiratory Function in Patients with Amyotrophic Lateral Sclerosis.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Motor-, behavior- and/or cognition-related symptoms are key hallmarks in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with TDP-43 pathology (FTLD-TDP), respectively. It has been reported that these patients also experience sleep disturbances, which might implicate a disturbed circadian rhythm of the sleep/wake cycle. It remains unknown, however, whether cells involved in the circadian sleep/wake cycle are affected by ALS- and FTLD-related neuropathological changes including phosphorylated TDP-43 (pTDP-43) aggregates and dipeptide repeat protein (DPR) inclusions resulting from the C9orf72 hexanucleotide repeat expansion. Immunohistochemistry for DPR and pTDP-43 pathology was performed in post-mortem hypothalamus and pineal gland tissue of patients with ALS and/or FTLD-TDP with and without the C9orf72 repeat expansion and healthy controls. Circadian sleep/wake-associated cells, including pinealocytes and hypothalamic neurons related to the suprachiasmatic nucleus (SCN), were microscopically assessed. We observed numerous DPR inclusions (poly(GA), poly(GP), poly(GR) and poly(PR)) in the pinealocytes and few poly(GA) inclusions in the SCN-related neurons in C9orf72-related ALS and/or FTLD-TDP cases. These circadian sleep/wake-associated cells, however, were devoid of pTDP-43 pathology both in C9orf72- and nonC9orf72-related ALS and/or FTLD-TDP cases. Our neuropathological findings show that pinealocytes and, to a lesser extent, SCN-related neurons are affected by DPR pathology. This may reflect an involvement of these cells in sleep/wake disturbances observed in ALS and/or FTLD-TDP patients.
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