NR AXNA
AU Geschwind,M.D.; Johnson,D.Y.; Goldman,J.S.; Haman,A.; Devereux,G.; Raudabaugh,B.J.; Torres-Chae,C.; Miller,B.L.
TI Descripton of a U.S. Genetic Prion Disease Cohort
QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Epidemiology, Risk Assessment and Transmission P04.69
IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf
PT Konferenz-Poster
AB
Background: Ten to 15% of human prion diseases are genetic and include familial Jakob-Creutzfeldt Disease (fCJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI). Human genetic prion diseases (gCJD) have varied clinical presentations, including behavioral/psychiatric abnormalities, cognitive dysfunction, parkinsonism, ataxia, dysautonomia and insomnia. Symptoms and age of onset can vary even within a mutation and even within a family. Diagnosis is particularly difficult because symptoms can overlap with more common neurodegenerative diseases. In this analysis, we review the presentations of gCJD cases from a large U.S. prion referral center.
Design/Methods: We review available medical records from patients with, or at risk for, gCJD, referred to our center over the past 5 years. For most patients seen at our center, EEG, MEG, neurologic exam, neuropsychological testing, CSF testing, and PRNP mutation analysis (most performed through the U.S. NPDPSC) are performed. EEGs and MRIs were reviewed by readers blinded to clinical diagnosis.
Results: Among more than 800 referrals for potential prion disease over the past five years, approximately 15% had, or were at risk for, PRNP mutations. 9 PRNP mutations were identified in 44 symptomatic patients among 31 kindreds. There were wide ranges for age of onset and disease duration for fCJD, GSS, and FFI. We found differences in the frequencies of first symptoms for the three diseases. EEG and 14-33 protein results were poor diagnostic tools for gCJD, while DWI and FLAIR MRI were often abnormal in fCJD. Several cases were identified who initially had a negative family history for prion disease. We summarize features of symptomatic patients in this genetic prion cohort and some present some representative cases.
Conclusions/Relevance: Diagnosis of genetic prion disease involves careful attention to family history and consideration of the possibility of a genetic etiology. A reportedly negative family history does not necessarily indicate the absence of a PRNP mutation. Genetic testing should be done for any patient with presumed sCJD and should be considered for anyone with an unexplained neurological disorder, particularly with prominent symptoms of ataxia, parkinsonism, behavioral changes or cognitive dysfunction.
AD M.D. Geschwind, D.Y. Johnson, A. Haman, G. Devereux, B.J. Raudabaugh, C. Torres-Chae, B.L. Miller, University of California, San Francisco, USA; J.S. Goldman, Columbia College of Physicians and Surgeons, USA
SP englisch
PO Schottland
EA pdf-Datei und Poster (Posterautoren: M.D. Geschwind, A. Haman, C. Torres-Chae, B.J. Raudabaugh, G. Devereux und B.L. Miller; Postertitel: CSF findings in a large Unites States sporadic CJD cohort)