Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10636 (tau protein)
 5,110 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This case report describes the sporadic Creutzfeldt-Jakob disease (CJD) of a 53-year-old man who initially complained about vertigo and dizziness. Within 18 weeks, he developed impaired memory, hemineglect, and sensory impairment of the left half of the body. A CSF tap was positive for 14-3-3 protein and showed increased tau protein, neuron-specific enolase (NSE), and the astroglial protein S-100 B. The EEG showed right temporal sharp waves without periodicity. Diffusion-weighted MRI revealed hyperintensities in the right temporo-occipital cortex which corresponded well with hypometabolic areas in a PET scan and the neurological and neuropsychological deficits. The morphological FLAIR T2 MRI showed no pathological changes. Within 20 weeks, the patient developed severe dementia with decreased spatial orientation and myoclonia, became incontinent, and was confined to bed. He died within 22 weeks after the first presentation of symptoms.
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PMID:[Correlation of diffusion-weighted magnetic resonance imaging with neurological deficits in sporadic Creutzfeldt-Jakob Disease]. 1221 82

BACKGROUND Creutzfeldt-Jakob disease (CJD) is a human prion disease characterized by severe and rapidly progressive fatal neurodegeneration. Currently, there is no cure for CJD, and death from CJD usually occurs within 1 year from the onset of the symptom, and the median survival time is 6 months. CASE REPORT The patient was a 63-year-old woman who presented to the hospital reporting having vertigo for the past 1 week and involuntary muscle contraction resulting in slow repetitive movement and abnormal posture for the past 3 days. A physical examination at the time of admission revealed unsteady gait, dystonia, and dysmetria of the left upper limb. There was no nystagmus on examination. Electroencephalography done on the same day showed focal epileptiform discharge on bilateral temporal lobes, which were more on the right side than the left. It also showed mild diffuse cerebral slowing. Cerebrospinal fluid analysis showed positive for RT-QulC, T tau protein, and 14-3-3. A diagnosis of CJD was made based on clinical course, imaging, and cerebrospinal fluid analysis. CONCLUSIONS The diagnosis of CJD can be suspected based on clinical signs and symptoms and can be confirmed after performing MRI, EEG, and lumbar puncture. Therefore, it is important to recognize vertigo as an unspecific symptom of CJD so that a timely diagnosis can be made and unnecessary procedures can be avoided.
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PMID:Cerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease. 3322 15