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Eur J Neurol. 2016 Jun;23(6):1126-33. doi: 10.1111/ene.12991. Epub 2016 Mar 31.

Cerebrospinal fluid markers in the differentiation of molecular subtypes of sporadic Creutzfeldt-Jakob disease.

Author information

1
Department of Neurology, Clinical Dementia Centre and DZNE, University Medical School, Georg-August University, Göttingen, Germany.
2
Second Department of Neurology, Comenius University, Bratislava, Slovakia.
3
Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, Goethe University, Frankfurt, Germany.
4
Institute for Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.

Abstract

BACKGROUND AND PURPOSE:

Cerebrospinal fluid (CSF) analysis supports the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) when applied within an adequate clinical context. A diagnostic potential has been attributed to CSF proteins such as 14-3-3, but also tau protein, phosphorylated tau (181P) (p-tau) protein, amyloid β1-42 , S100B and neuron-specific enolase (NSE). There has been only limited information available about the contribution of CSF analysis in the differentiation of various molecular sCJD subtypes.

METHODS:

The CSF levels of the aforementioned proteins from 73 sCJD patients with distinct molecular subtypes were determined.

RESULTS:

Differences in tau values were significant amongst the homozygous patients (MM and VV genotype) compared to the heterozygous group (P = 0.07 and P = 0.02 respectively). Significantly higher CSF tau levels (P = 0.003) and NSE (P = 0.02) but lower p-tau/tau ratio (P = 0.01) were observed in MM1 compared to MM2 patients. The p-tau/tau ratio enabled the differentiation of MV genotype with higher levels in PrP(sc) type 2 (P = 0.04). Elevation of S100B (P < 0.001) and NSE (P = 0.03) was observed in VV2 compared to VV1 subtype. PRNP codon 129 genotype, PrP(sc) isotype, disease duration and clinical stage influenced the test sensitivity in all proteins.

CONCLUSIONS:

Cerebrospinal fluid protein levels might be useful in the pre-mortem differentiation of molecular sCJD subtypes when the codon 129 genotype is known.

KEYWORDS:

Creutzfeldt−Jakob disease; S100B; cerebrospinal fluid; neuron-specific enolase; tau

PMID:
27029507
DOI:
10.1111/ene.12991
[Indexed for MEDLINE]

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