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European Journal of Epidemiology
Published in: European Journal of Epidemiology 2/2016

01-02-2016 | GENETIC EPIDEMIOLOGY

Clinical findings and diagnosis in genetic prion diseases in Germany

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

Published in: European Journal of Epidemiology | Issue 2/2016

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Abstract

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 found during disease course in all patients independently of the type of the mutation. Psychiatric manifestations were frequent (87 %). Neuropsychological abnormalities were observed in 67 %, and aphasia was the most common disturbance (45 %). In E200K, V210I and D178N patients, visual/oculomotor deficits were followed by ataxia early in the disease. Dementia followed by ataxia at onset was common in patients with insert and E196K mutation. P102L patients had isolated ataxia over a longer time period followed by pyramidal signs. Dementia was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in sporadic CJD. We provide the first detailed analysis of clinical signs and symptoms in a large group of patients with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG.
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Metadata
Title
Clinical findings and diagnosis in genetic prion diseases in Germany
Authors
Anna Krasnianski
Uta Heinemann
Claudia Ponto
Jasmine Kortt
Kai Kallenberg
Daniela Varges
Walter J. Schulz-Schaeffer
Hans A. Kretzschmar
Inga Zerr
Publication date
01-02-2016
Publisher
Springer Netherlands
Published in
European Journal of Epidemiology / Issue 2/2016
Print ISSN: 0393-2990
Electronic ISSN: 1573-7284
DOI
https://doi.org/10.1007/s10654-015-0049-y

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