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CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease
Masanori Kurihara1, Hiroki Komatsu1, Renpei Sengoku1
1From the Department of Neurology (M.K., H.K., R.S., M.S., S.Morimoto., T.M., A.A., K.H., R.I., M.H., Y.N., S.Murayama., K.K., A.I.), Tokyo Metropolitan Geriatric Hospital and Institution of Gerontology; Department of Neuropathology (the Brain Bank for Aging Research) (R.S., T.M., A.A., M.O., Y.S., S. Murayama), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology; Department of Neurology (R.S.), The Jikei University School of Medicine, Tokyo; Department of Neurology (M.S.), Toho University Faculty of Medicine, Tokyo; Department of Physiology (S. Morimoto), Keio University School of Medicine, Tokyo; Research Team for Neuroimaging (K. Ishibashi, K. Ishii), Tokyo Metropolitan Institute of Gerontology; Department of Neurology (A.M., S.S., H.I.), Graduate School of Medicine, The University of Tokyo; Research Initiative Center (K.A.), Organization for Research Initiative and Promotion, Tottori University, Yonago; Integrated Research Initiative for Living Well with Dementia (K.O., A.I.), Tokyo Metropolitan Geriatric Hospital and Institution of Gerontology; Department of Diagnostic Radiology (A.M.T.), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology; Brain Bank for Neurodevelopmental (S. Murayama), Neurological and Psychiatric Disorders, United Graduate School of Child Development, Osaka University, Japan.
Elevated cerebrospinal fluid (CSF) phosphorylated tau (p-tau181) levels are observed in Neuronal Intranuclear Inclusion Disease (NIID), even without amyloid accumulation. This suggests altered tau phosphorylation or secretion mechanisms in NIID patients.
Area of Science:
- Neurodegenerative diseases
- Biomarker research
- Alzheimer's disease diagnostics
Background:
- CSF p-tau181 is a key Alzheimer's disease biomarker.
- Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disorder with dementia and neuropathy.
- CSF biomarkers for NIID have not been previously reported.
Purpose of the Study:
- To investigate CSF biomarker alterations in NIID patients.
- To assess CSF p-tau181 levels in NIID compared to other neurocognitive disorders.
Main Methods:
- Retrospective observational study comparing 12 NIID patients with Alzheimer's disease and other dementia cohorts.
- Measured CSF p-tau181, total tau, Aβ42, HVA, and 5-HIAA.
- Amyloid PET (PiB) performed in a subset of NIID patients.
Main Results:
- CSF p-tau181 was significantly higher in NIID compared to DLB, PSP, and CBS, and comparable to AD.
- 91.7% of NIID patients had elevated CSF p-tau181.
- NIID patients showed a higher proportion of increased CSF p-tau181 with normal Aβ42 (A-T+) compared to controls.
- CSF HVA and 5-HIAA were significantly higher in NIID.
Conclusions:
- CSF p-tau181 is elevated in NIID, irrespective of amyloid accumulation.
- The findings suggest potential alterations in tau phosphorylation or secretion in NIID.
- CSF p-tau181 may serve as a potential biomarker for NIID.
