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Article

Clinical findings and diagnosis in genetic prion diseases in Germany.

European journal of epidemiology - 1 Feb 2016

Krasnianski Anna, Heinemann Uta, Ponto Claudia, Kortt Jasmine, Kallenberg Kai, Varges Daniela, Schulz-Schaeffer Walter J, Kretzschmar Hans A, Zerr Inga

Abstract excerpt

To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). Dementia (35 %) and ataxia (29 %) were the most common initial symptoms and signs. A wide variety and high frequency of neurological/psychiatric symptoms and signs was...

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Identifiers

PMID: 26076917
DOI: 10.1007/s10654-015-0049-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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