Human prion diseases or transmissible spongiform encephalopathies are progressive fatal neuropsychiatric diseases. In addition to the evaluation of clinical features, a common diagnostic procedure includes examination of the protein 14-3-3 in the cerebrospinal fluid, performing EEG to detect periodic sharp wave complexes with triphasic morphology, and cranial MRI to demonstrate high signal inte...

BACKGROUND Approximately 2% of Alzheimer disease cases and 10% to 15% of prion disease cases are due to mutations in autosomal dominant genes. Mutations have been found in patients without family histories of neurological disease. OBJECTIVES To emphasize the need for consideration of a genetic etiology of prion disease and early-onset Alzheimer disease, regardless of the absence of a signific...

Rapidly progressive dementias are a rare group of cognitive disorders that primarily require the exclusion large number potentially reversible causes. Prion diseases frequent in this disorders. Some hereditary forms Alzheimer's disease can also be aggressive, with onset at young age and autosomal dominant inheritance family. The article presents first case report patient verified Ile143Thr muta...

Only a few years ago, pharmacotherapy of Creutzfeldt-Jakob disease was inconceivable. The enigmatic prion agent causing Creutzfeldt-Jakob disease, consisting solely of a misfolded conformational isoform, the scrapie prion protein, of the normal cellular prion protein was considered hard to treat by routine drug development. However, huge progress has been achieved in recent years, demonstrating...

Creutzfeldt-Jakob disease (CJD) is a rare prion disorder that has been the subject of both professional and public interest following the identification of variant CJD as a zoonotic disorder. There have been recent advances in diagnostic techniques, including real-time quaking-induced conversion and magnetic resonance imaging brain scan, that have allowed more accurate case recognition in all f...

OBJECTIVES To find and investigate, retrospectively, as many cases as possible of Creutzfeldt-Jakob disease (CJD) in Sweden dying during the period 1 January 1985 to 31 December 1996 and to detect any possible case(s) of new variant CJD. METHODS The patients were found through computer search of all death certificates in Sweden on which CJD was mentioned, through information from the Swedish ...

A 50-year-old woman presented with progressive visual disturbance, ataxia, and dementia. The cerebral cortex became atrophic, as the disease progressed, and electroencephalography showed periodic synchronous discharges. The patient's prion gene revealed a point mutation (232Met to Arg), and a diagnosis of Creutzfeldt-Jakob disease was made. Iomazenil single-photon emission computed tomography (...

We report a case of iatrogenic Creutzfeldt-Jakob disease(iCJD) in a child with a neonatal growth hormone (GH) deficiency that was treated with native human growth hormone (hGH) between the ages of 9 months and 7 years. Three years after the end of treatment a progressive neurological syndrome consistent with Creutzfeldt-Jakob disease (CJD) developed, leading to death within a year, at age 11. N...

In sporadic Alzheimer's disease (AD), cerebrospinal fluid (CSF) analysis is becoming increasingly relevant to establish an early diagnosis. We present a case of familial AD due to a presenilin-1 mutation in which CSF studies suggested appropriate DNA diagnostics. A 38 year old Dutch man presented with dementia, spastic paraparesis, and frontal executive function impairments, mimicking familial ...