TY  - JOUR
A1  - Kuzkina, A.
A1  - Rößle, J.
A1  - Seger, A.
A1  - Panzer, C.
A1  - Kohl, A.
A1  - Maltese, V.
A1  - Musacchio, T.
A1  - Blaschke, S. J.
A1  - Tamgüney, G.
A1  - Kaulitz, S.
A1  - Rak, K.
A1  - Scherzad, A.
A1  - Zimmermann, P. H.
A1  - Klussmann, J. P.
A1  - Hackenberg, S.
A1  - Volkmann, J.
A1  - Sommer, C.
A1  - Sommerauer, M.
A1  - Doppler, K.
T1  - Combining skin and olfactory α-synuclein seed amplification assays (SAA)—towards biomarker-driven phenotyping in synucleinopathies
JF  - npj Parkinson’s Disease
N2  - Seed amplification assays (SAA) are becoming commonly used in synucleinopathies to detect α-synuclein aggregates. Studies in Parkinson’s disease (PD) and isolated REM-sleep behavior disorder (iRBD) have shown a considerably lower sensitivity in the olfactory epithelium than in CSF or skin. To get an insight into α-synuclein (α-syn) distribution within the nervous system and reasons for low sensitivity, we compared SAA assessment of nasal brushings and skin biopsies in PD (n = 27) and iRBD patients (n = 18) and unaffected controls (n = 30). α-syn misfolding was overall found less commonly in the olfactory epithelium than in the skin, which could be partially explained by the nasal brushing matrix exerting an inhibitory effect on aggregation. Importantly, the α-syn distribution was not uniform: there was a higher deposition of misfolded α-syn across all sampled tissues in the iRBD cohort compared to PD (supporting the notion of RBD as a marker of a more malignant subtype of synucleinopathy) and in a subgroup of PD patients, misfolded α-syn was detectable only in the olfactory epithelium, suggestive of the recently proposed brain-first PD subtype. Assaying α-syn of diverse origins, such as olfactory (part of the central nervous system) and skin (peripheral nervous system), could increase diagnostic accuracy and allow better stratification of patients.
KW  - diagnostic markers
KW  - Parkinson's disease
Y1  - 2023
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-357687
SN  - 2373-8057
VL  - 9
ER  - 
TY  - JOUR
A1  - Kuzkina, Anastasia
A1  - Bargar, Connor
A1  - Schmitt, Daniela
A1  - Rößle, Jonas
A1  - Wang, Wen
A1  - Schubert, Anna-Lena
A1  - Tatsuoka, Curtis
A1  - Gunzler, Steven A.
A1  - Zou, Wen-Quan
A1  - Volkmann, Jens
A1  - Sommer, Claudia
A1  - Doppler, Kathrin
A1  - Chen, Shu G.
T1  - Diagnostic value of skin RT-QuIC in Parkinson's disease: a two-laboratory study
JF  - NPJ Parkinson's Disease
N2  - Skin alpha-synuclein deposition is considered a potential biomarker for Parkinson's disease (PD). Real-time quaking-induced conversion (RT-QuIC) is a novel, ultrasensitive, and efficient seeding assay that enables the detection of minute amounts of alpha-synuclein aggregates. We aimed to determine the diagnostic accuracy, reliability, and reproducibility of alpha-synuclein RT-QuIC assay of skin biopsy for diagnosing PD and to explore its correlation with clinical markers of PD in a two-center inter-laboratory comparison study. Patients with clinically diagnosed PD (n = 34), as well as control subjects (n = 30), underwent skin punch biopsy at multiple sites (neck, lower back, thigh, and lower leg). The skin biopsy samples (198 in total) were divided in half to be analyzed by RT-QuIC assay in two independent laboratories. The a-synuclein RT-QuIC assay of multiple skin biopsies supported the clinical diagnosis of PD with a diagnostic accuracy of 88.9% and showed a high degree of inter-rater agreement between the two laboratories (92.2%). Higher alpha-synuclein seeding activity in RT-QuIC was shown in patients with longer disease duration and more advanced disease stage and correlated with the presence of REM sleep behavior disorder, cognitive impairment, and constipation. The alpha-synuclein RT-QuIC assay of minimally invasive skin punch biopsy is a reliable and reproducible biomarker for Parkinson's disease. Moreover, alpha-synuclein RT-QuIC seeding activity in the skin may serve as a potential indicator of progression as it correlates with the disease stage and certain non-motor symptoms.
KW  - diagnostic markers
KW  - Parkinson's disease
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-260451
VL  - 7
IS  - 1
ER  - 
TY  - JOUR
A1  - Meyer, Malin Tordis
A1  - Watermann, Christoph
A1  - Dreyer, Thomas
A1  - Ergün, Süleyman
A1  - Karnati, Srikanth
T1  - 2021 update on diagnostic markers and translocation in salivary gland tumors
JF  - International Journal of Molecular Sciences
N2  - Salivary gland tumors are a rare tumor entity within malignant tumors of all tissues. The most common are malignant mucoepidermoid carcinoma, adenoid cystic carcinoma, and acinic cell carcinoma. Pleomorphic adenoma is the most recurrent form of benign salivary gland tumor. Due to their low incidence rates and complex histological patterns, they are difficult to diagnose accurately. Malignant tumors of the salivary glands are challenging in terms of differentiation because of their variability in histochemistry and translocations. Therefore, the primary goal of the study was to review the current literature to identify the recent developments in histochemical diagnostics and translocations for differentiating salivary gland tumors.
KW  - salivary gland tumors
KW  - epithelial salivary gland
KW  - adenoid cystic carcinoma (ACC)
KW  - pleomorphic adenoma
KW  - mucoepidermoid carcinoma
KW  - diagnostic markers
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-261057
SN  - 1422-0067
VL  - 22
IS  - 13
ER  -