Biomedical subjects
Raphael M Bonelli
Publications and source records attributed to Raphael M Bonelli.
Mirtazapine in suicidal Huntington's disease.
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Cerebrospinal fluid tissue transglutaminase in vascular dementia.
The enzyme tissue transglutaminase (tTG), an indicator of acute cell death, is found in brains of Alzheimer's and Huntington's disease patients. tTG, as a specific marker for apoptosis, may therefore be a powerful biochemical marker of the acute degenerating process in vivo and may be useful in discrimination between vascular dementia (VaD) and Alzheimer's disease (AD). It may serve as completion of CSF analysis in diagnosis of dementing disorders and be a simple way of assessing the efficacy of possible new anti-apoptotic drugs.
Deep brain stimulation in Huntington's disease.
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Cerebrospinal fluid tissue transglutaminase as a biochemical marker for Alzheimer's disease.
Tissue transglutaminase (tTG) is an indicator of acute cell death in vitro. An increase in tTG protein level is found in postmortem Alzheimer's disease (AD) brains as well as in Huntington's disease. No study revealed tTG in vivo so far. We investigated the concentrations of tTG in the cerebrospinal fluid (CSF) obtained from 84 patients using ELISA assays. We compared 33 patients with probable AD to 18 patients with probable vascular dementia (VaD) and 33 control patients without neuropsychological deficit. Diagnosis was supported by CSF parameter and neuroimaging. We found a highly significant difference (P = 0.001) between the concentration of tTG in the AD groups (7.58 pg/ml) and controls (2.99 pg/ml). There was no statistical difference between controls and VaD (2.93 pg/ml). Interestingly, tTG did not show an association with tau protein, Abeta42, apoE4, neuropsychological items, or age. Males showed lower tTG values than females; however, this difference did not reach statistical significance. To our knowledge, this is the first demonstration that tTG is increased in AD in vivo. Our results suggest that tTG may be a powerful biochemical marker of the acute degenerating process in vivo. It may serve as completion of CSF analysis in the diagnosis of dementing disorders and may be a simple way of assessing the efficacy of possible new antiapoptotic drugs.
Quetiapine in Huntington's disease: a first case report.
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Riluzole and olanzapine in Huntington's disease.
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Zolpidem in progressive supranuclear palsy.
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Pramipexole ameliorates neurologic and psychiatric symptoms in a Westphal variant of Huntington's disease.
Levodopa is recommended as a therapeutic approach for patients with the hypokinetic-rigid, Westphal variant of Huntington's disease, but no guidelines are available for the case of nonrespondence to levodopa. In this study, however, we report a 34-year-old woman with this rare variant who showed a clear-cut improvement in motor function and depressive symptoms after treatment with pramipexole, a new dopamine agonist.
Olanzapine for Huntington's disease: an open label study.
The aim of this prospective open label study was to assess the efficacy of olanzapine for motor symptoms in Huntington's disease (HD). Olanzapine was administrated to nine patients with genetically confirmed HD in increasing doses until satisfactory clinical effect or the appearance of side effects. The patients were evaluated at baseline and after 14 days of treatment using the motor scale of the Unified HD Rating Scale (UHDRS). The patients improved significantly in most subscores of the UHDRS, including fine motor tasks, although some patients needed a rather high dose (30 mg per day). No adverse effects were reported by the patents spontaneously or were observed directly by the investigator. High-dose olanzapine seems to be useful in choreatic HD patients. A double blind, placebo-controlled trial appears warranted to definitively establish the symptomatic value of olanzapine in HD.
Severe headache with venlafaxine withdrawal.
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