Creutzfeldt-Jakob disease (CJD)is a rapidly progressive, universally fatal, and transmissible neurodegenerative disease that imposes a terrible burden on patients and their families. The recent discovery that quinacrine may be a potential therapy for CJD could have enormous implications for patients. Unfortunately, patients are usually diagnosed in advanced stages of the disease - a time when available treatments may be ineffective. This delayed diagnosis is in part because current clinical criteria for sporadic CJD (sCJD) are based on a constellation of symptoms that often occur only late in a patient's course. Recently, neuroimaging has shown potential to improve the diagnosis of sCJD. Additionally, an elevated level of the protein 14-3-3 in the cerebrospinal fluid (CSF) has been touted as a sensitive and specific biomarker for sCJD and has recently been added to the diagnostic criteria for sCJD. Yet, no systematic study has been undertaken to identify the sensitivity and specificity of these two types of biomarkers in pathologically proven sCJD versus non-prion rapidly progressive dementias. The research goals of this proposal focus on identifying better ways for early diagnosis of CJD through a systematic analysis of clinical and imaging findings.
The specific aims of this research will be as follows: 1 . To determine the sensitivity and specificity of diffusion-weighted imaging (DWI) sequence abnormalities in sporadic CJD, and 2. To determine the sensitivity and specificity of the CSF 14-3-3 protein as a marker for sporadic CJD. This research should provide new information on the early features of sCJD and thus facilitate diagnosis. In addition, this proposal will combine didactic teaching, mentoring, and clinical research experience to build upon Dr. Geschwind's training in behavioral neurology and neuroscience, thereby helping him to design and implement future clinical treatment studies for human prion disease and other dementias.
| Savard, Martin; Irani, Sarosh R; Guillemette, Annie et al. (2016) Creutzfeldt-Jakob Disease-Like Periodic Sharp Wave Complexes in Voltage-Gated Potassium Channel-Complex Antibodies Encephalitis: A Case Report. J Clin Neurophysiol 33:e1-4 |
| Coulthart, Michael B; Geschwind, Michael D; Qureshi, Shireen et al. (2016) A case cluster of variant Creutzfeldt-Jakob disease linked to the Kingdom of Saudi Arabia. Brain 139:2609-2616 |
| Ng, Adeline S L; Kramer, Joel; Centurion, Alejandro et al. (2015) Clinico-pathological correlation in adenylate kinase 5 autoimmune limbic encephalitis. J Neuroimmunol 287:31-5 |
| Apple, A C; Possin, K L; Satris, G et al. (2014) Quantitative 7T phase imaging in premanifest Huntington disease. AJNR Am J Neuroradiol 35:1707-13 |
| You, S Christine; Geschwind, Michael D; Sha, Sharon J et al. (2014) Executive functions in premanifest Huntington's disease. Mov Disord 29:405-9 |
| Caverzasi, E; Henry, R G; Vitali, P et al. (2014) Application of quantitative DTI metrics in sporadic CJD. Neuroimage Clin 4:426-35 |
| Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J et al. (2014) White matter involvement in sporadic Creutzfeldt-Jakob disease. Brain 137:3339-54 |
| Bettcher, B M; Gelfand, J M; Irani, S R et al. (2014) More than memory impairment in voltage-gated potassium channel complex encephalopathy. Eur J Neurol 21:1301-10 |
| Minikel, Eric Vallabh; Zerr, Inga; Collins, Steven J et al. (2014) Ascertainment bias causes false signal of anticipation in genetic prion disease. Am J Hum Genet 95:371-82 |
| Takada, Leonel T; Geschwind, Michael D (2013) Prion diseases. Semin Neurol 33:348-56 |
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