TY  - JOUR
AU  - Abu-Rumeileh, Samir
AU  - Scholle, Leila
AU  - Mensch, Alexander
AU  - Großkopf, Henning
AU  - Ratti, Antonia
AU  - Kölsch, Anna
AU  - Stoltenburg-Didinger, Gisela
AU  - Conrad, Julian
AU  - De Gobbi, Anna
AU  - Barba, Lorenzo
AU  - Steinacker, Petra
AU  - Klafki, Hans-Wolfgang
AU  - Oeckl, Patrick
AU  - Halbgebauer, Steffen
AU  - Stapf, Caroline
AU  - Posa, Andreas
AU  - Kendzierski, Thomas
AU  - Silani, Vincenzo
AU  - Hausner, Lucrezia
AU  - Ticozzi, Nicola
AU  - Froelich, Lutz
AU  - Weishaupt, Jochen Hans
AU  - Verde, Federico
AU  - Otto, Markus
TI  - Phosphorylated tau 181 and 217 are elevated in serum and muscle of patients with amyotrophic lateral sclerosis.
JO  - Nature Communications
VL  - 16
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Springer Nature
M1  - DZNE-2025-00412
SP  - 2019
PY  - 2025
AB  - Blood phosphorylated (p)-tau 181 and p-tau 217 have been proposed as accurate biomarkers of Alzheimer's disease (AD) pathology. However, blood p-tau 181 is also elevated in amyotrophic lateral sclerosis (ALS) without a clearly identified source. We measured serum p-tau 181 and p-tau 217 in a multicentre cohort of ALS (n = 152), AD (n = 111) cases and disease controls (n = 99) recruited from four different centres. Further, we investigated the existence of both p-tau species using immunohistochemistry (IHC) and mass spectrometry (MS) in muscle biopsies of ALS cases (IHC: n = 13, MS: n = 5) and disease controls (IHC: n = 14, MS: n = 5) from one cohort. Serum p-tau 181 and p-tau 217 were higher in AD and ALS patients compared to disease controls. IHC and MS analyses revealed the presence of p-tau 181 and 217 in muscle biopsies from both ALS cases and disease controls, with ALS samples showing increased p-tau reactivity in atrophic muscle fibres. Blood p-tau species could potentially be used to diagnose both ALS and AD.
KW  - Humans
KW  - Amyotrophic Lateral Sclerosis: blood
KW  - Amyotrophic Lateral Sclerosis: metabolism
KW  - Amyotrophic Lateral Sclerosis: pathology
KW  - tau Proteins: metabolism
KW  - tau Proteins: blood
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Aged
KW  - Phosphorylation
KW  - Biomarkers: blood
KW  - Alzheimer Disease: blood
KW  - Alzheimer Disease: metabolism
KW  - Alzheimer Disease: pathology
KW  - Alzheimer Disease: diagnosis
KW  - Muscle, Skeletal: metabolism
KW  - Muscle, Skeletal: pathology
KW  - Case-Control Studies
KW  - Biopsy
KW  - Aged, 80 and over
KW  - Adult
KW  - Cohort Studies
KW  - tau Proteins (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
KW  - MAPT protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40044663
C2  - pmc:PMC11882981
DO  - DOI:10.1038/s41467-025-57144-7
UR  - https://pub.dzne.de/record/277429
ER  -