1,721,126 research outputs found
Early discontinuation and titration strategies in foslevodopa/foscarbidopa therapy for Parkinson's disease
No full textProtein Tyrosine phosphatase receptor type C (CD45) C77G mutation and susceptibility to multiple sclerosis, autoimmune and infectious diseases
No full textThe protein tyrosine phosphatase receptor type C (PTPRC), also known as CD45 molecule, is a glycoprotein expressed on the cell surface of all hematopoietic cells except erythrocytes. Functionally, PTPRC is an immunomodulatory gene required for the efficient development of the immune system where it is involved in antigen receptor signal transduction. Several single nucleotide polymorphisms of the PTPRC gene have been described. In humans, the most extensively reported PTPRC polymorphism is the C77G point mutation in exon 4, and this nucleotide transversion causes abnormal PTPRC splicing, thus resulting in an altered expression pattern of isoforms with enhanced expression of high-molecular-weight isoforms (CD45RA, CD45RB, and CD45RC) and decreased low-molecular-weight CD45RO molecules. This altered expression pattern of isoforms can have significant effects on immune function, autoimmunity, and viral infections. Previous epidemiological studies have investigated the relationship between the C77G variant and several diseases. An association between this polymorphism and susceptibility to multiple sclerosis (MS) has been reported in some research papers, thereby suggesting a possible etiologic role of PTPRC in the development of this disease. Subsequent studies performed in other populations, including family-based and case-control studies, could not replicate this relationship between MS and the C77G point mutation, thus suggesting that more statistically powered studies are needed to confirm such an association or not. Furthermore, C77G polymorphism has been suggested to contribute to the development of some infective or autoimmune disorders. As individuals with C77G polymorphism may have increased susceptibility to HIV-1 infection, the frequency of this variant has been investigated in hepatitis C, histiocytosis, and autoimmune diseases, with contrasting results. Although PTPRC represents one of the modifier genes of human autoimmunity, further studies are needed to explain the exact role of PTPRC gene C77G variant in the contribution to the alteration of immune responses in infectious and autoimmune diseases
Author Response: Teaching Video NeuroImage: Bilateral Hemifacial Spasm in Giant Cell Arteritis
No full textWe appreciate the comments on our case.(1) Although we agree that a bilateral hemifacial spasm is typically characterized by asynchronous muscle contractions on the left and right sides, contractions are also often asymmetric in severity, as observed in our case. The cheek movements on the right side of the face were likely the consequence of a stronger contraction of the palpebral part of the orbicularis oculi muscle, rather than the result of cheek muscle contractions as the orbicularis oris did not move during spasms. While a central origin cannot entirely be ruled out, the exclusive involvement of the upper facial muscles in our patient seems more consistent with a peripheral irritation of the superior branch of the facial nerves
Functional neurological disorders and Parkinson's disease – A new research agenda?
No full textthe relationship between PD and FND presents an
important area of interest to be covered with more intense efforts. The
potential role of FND as a prodromal indicator of PD onset may aid in a
better understanding of the pathophysiology of both conditions. In the
meantime, neurologists should be alert and consider that a patient may
be in prodromal PD when they present with FMD, especially tremor, and
conversely that a patient with PD may have symptoms that are best
managed with FMD focused neurorehabilitation rather than with PD
related drug treatments
Dopamine dysregulation syndrome in Parkinson's disease patients on levodopa-carbidopa intestinal gel
No full textTherapeutic interventions and adjustments in the management of Parkinson disease: role of combined carbidopa/levodopa/entacapone (Stalevo (R))
No full textParkinson disease (PD) is a neurodegenerative disorder characterized by 3 cardinal motor symptoms: resting tremor, rigidity, and bradykinesia. Since its introduction 40 years ago, levodopa has represented the gold standard for dopaminergic stimulation therapy in patients with PD. Levodopa is routinely combined with a dopa-decarboxylase inhibitor (DDCI) to prevent the conversion of levodopa into dopamine in peripheral circulation. However, up to 80% of patients treated with continuous levodopa manifest the onset of disabling motor complications capable of producing an adverse effect on quality of life as the disease progresses. In recent years, a new, safe, and efficacious armamentarium of treatment options has been provided by the marketing of the catechol-O-methyltransferase (COMT) inhibitor, entacapone, a peripheral blocker of dopa to 3-0-methyldopa metabolism, which increments levodopa brain availability. When administered with levodopa, entacapone conjugates the rapid onset of levodopa-induced effects with a protracted efficiency, thus providing additional benefits to classic levodopa treatment by increasing "on" time in fluctuating PD patients, and theoretically providing a more continuous and physiological-like stimulation of dopamine receptors implying a reduced risk of motor complications. In this context, the use of a single administration of combined carbidopa/levodopa/entacapone (Stalevo (R)) in the treatment of PD affords clinical improvements similar to those obtained by 2 separate tablets (ie, levodopa/DDCI and entacapone), although the former produces a more positive effect on quality of life than the latter. Additionally, the STalevo Reduction In Dyskinesia Evaluation (STRIDE-PD) study was designed with the aim of demonstrating that the combination of levodopa, carbidopa, and entacapone, used as initial levodopa therapy, significantly delays the onset of dyskinesias compared with the conventional levodopa/carbidopa formulation. Unfortunately, STRIDE-PD failed to prove the benefit of continuous dopaminergic stimulation with triple therapy in a clinical setting. Recently, the effect of combined COMT inhibitor with levodopa administration in reducing homocysteine synthesis has been described. To this regard, clear evidence has been presented indicating homocysteine as a risk factor for vascular diseases, cognitive impairment, and dementia. Several studies have discussed the potential of entacapone as adjunct to levodopa/DDCI in reducing plasma homocysteine levels with contrasting results
Teaching Video NeuroImage: The "Chameleon Eyes Sign" in Myasthenia Gravis
No full textA 57-year-old man was admitted to the intensive care unit for dysphagia and respiratory failure in the context of bilateral pneumonia. After improvement with antibiotics, he developed fluctuating diplopia. Ocular examination showed intermittent exotropia of one or both eyes elicited by sustained gaze in different directions (Video 1). Acetylcholine receptor antibodies were detected (fixed cell-based assay), confirming myasthenia gravis (MG).1 The patient was treated with intravenous immunoglobulins (2 g/kg over 5 days), followed by oral prednisone (25 mg/d) with symptom resolution. Fatigable exotropia due to selective weakness of the medial recti may occur in MG,2 resembling the independent eye movements of a chameleon
Clozapine-induced persistent hiccup in a patient with Alzheimer's disease.
No full textWe report the onset of clozapine-induced persistent hiccup in a 68-year-old man with diagnosis of probable Alzheimer's disease, according to NINCDS-ADRDA criteria. In our patient, clozapine undoubtedly represents the key factor in the induction of hiccup. Indeed, the fact that re-challenge resulted in re-appearance of hiccup may be considered as a strong indication of causal relationship.
To our knowledge, clozapine-induced hiccup has never been described previously in the literature.
PMID:16024169[PubMed - indexed for MEDLINE
Lateral trunk flexion and Pisa syndrome in Parkinson's disease. Are they really always different conditions although denoting similar features?
No full textNavigating the Neuropsychiatric Risks of Foslevodopa/Foscarbidopa in Patients with Parkinson's Disease
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