Premium
Evaluation of α‐synuclein as a novel cerebrospinal fluid biomarker in different forms of prion diseases
Author(s) -
Llorens Franc,
Kruse Niels,
Schmitz Matthias,
Gotzmann Nadine,
Golanska Ewa,
Thüne Katrin,
Zejneli Orgeta,
Kanata Eirini,
Knipper Tobias,
Cramm Maria,
Lange Peter,
Zafar Saima,
Sikorska Beata,
Liberski Pawel P.,
Mitrova Eva,
Varges Daniela,
Schmidt Christian,
Sklaviadis Theodoros,
Mollenhauer Brit,
Zerr Inga
Publication year - 2017
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2016.09.013
Subject(s) - cerebrospinal fluid , medicine , biomarker , context (archaeology) , disease , pathology , differential diagnosis , dementia , prion protein , biology , genetics , paleontology
Accurate diagnosis of prion diseases and discrimination from alternative dementias gain importance in the clinical routine, but partial overlap in cerebrospinal fluid (CSF) biomarkers impedes absolute discrimination in the differential diagnostic context. Methods We established the clinical parameters for prion disease diagnosis for the quantification of CSF α‐synuclein in patients with sporadic ( n = 234) and genetic ( n = 56) prion diseases, in cases with cognitive impairment/dementia or neurodegenerative disease ( n = 278), and in the neurologic control group ( n = 111). Results An optimal cutoff value of 680 pg/mL α‐synuclein results in 94% sensitivity and 96% specificity when diagnosing sporadic Creutzfeldt‐Jakob disease (CJD). Genetic CJD cases showed increased CSF α‐synuclein values. No increased α‐synuclein levels were detected in non‐CJD cases with rapid progression course. Discussion Detection of α‐synuclein in the CSF of patients with suspected CJD is a valuable diagnostic test reaching almost full discrimination from non‐prion disease cases. These data highlight the utility of CSF α‐synuclein quantification in front of classical CSF biomarkers in clinical routine.