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Certain mitochondrial DNA (mtDNA) variants and haplogroups have been found to be associated with neurological disorders. Several studies have suggested that mtDNA variation could have an etiologic role in these disorders by affecting the ATP production on high-energy demanding organs, such as the brain. We have analyzed 15 mtDNA SNPs (mtSNPs) in five(More)
The aim of this study is to determine whether the balance problems experienced by Parkinson's disease (PD) patients may in part be due to dysfunctional processing of vestibular information, and to search for factors that may help predict the risk of falls. We evaluated the balance of 45 idiopathic PD patients and 20 healthy subjects by means of computerized(More)
Extensive published evidence supports the use of subcutaneously-administered apomorphine as an effective therapy for Parkinson's disease (PD) but to date no consensus recommendations have been available to guide healthcare professionals in the optimal application of apomorphine therapy in clinical practice. This document outlines best-practice(More)
Autoscopic phenomena are part of the reduplicative misidentification syndromes. These disorders may be a manifestation of both neurological and psychiatric conditions and consist of a double perception of the own body. These phenomena have been attributed to a dysfunction of the nondominant gyrus angularis. Two cases with this symptom are described. Case 1:(More)
INTRODUCTION Many patients who have had Parkinson's disease (PD) for several years will present severe motor fluctuations and dyskinesias which require more aggressive therapies. The different approaches which are now available include deep brain stimulation of the subthalamic nucleus or medial globus pallidus, subcutaneous infusion of apomorphine, and(More)
BACKGROUND Systemic mastocytosis is a mast cell proliferative disorder affecting many organs that is rarely associated with internal bleeding. OBJECTIVE To describe a case of spinal epidural hematoma in a patient with past medical history of urticaria pigmentosa and osteoporosis diagnosed with systemic mastocytosis. CASE REPORT A 63-year-old woman with(More)
INTRODUCTION Group C streptococci (GCS) are pathogens that often cause disease in domestic animals. However, infection in the human being is uncommon and generally occurs in those who are in contact with animals or who are immunocompromised. CASE REPORT A 30 year old woman, cocaine and cannabis abuser and in contact with horses was admitted to intensive(More)
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial(More)
INTRODUCTION The pathophysiology of PD (Parkinson's disease) has been related to the ubiquitin proteasome system and oxidative stress. Parkin acts as ubiquitin ligase on several substrates. Because genetic variants often have different frequencies across populations, population specific analyses are necessary to complement and validate results from(More)