Oriol De Fabregues

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Nonmotor symptoms (NMS) in Parkinson's disease (PD) can precede onset of motor symptoms. Relationship between premotor symptoms onset and motor features is limited. Our aim is to describe the presence and perceived onset of NMS in PD as well as their possible association with motor phenotype. Presence and onset of NMS were assessed by a custom-made(More)
Symptom control, daily "on" time, and quality of life (QoL) of nine patients with Advanced Parkinson's Disease was assessed following 18-months treatment with Continuous Intraduodenal Levodopa Infusion (CIDLI). Patients had severe motor fluctuations and dyskinesias and had previously received treatment with oral levodopa and dopamine agonists. There were(More)
OBJECTIVE In idiopathic Parkinson disease (IPD) sleep disorders are common and may antedate the onset of parkinsonism. Based on the clinical similarities between IPD and Parkinson disease associated with LRRK2 gene mutations (LRRK2-PD), we aimed to characterize sleep in parkinsonian and nonmanifesting LRRK2 mutation carriers (NMC). METHODS A comprehensive(More)
BACKGROUND Substantia nigra hyperechogenicity (SN+) has been proposed as a risk marker of Parkinson's disease (PD). Asymptomatic LRRK2 mutation carriers (aLRRK2+), at high risk for developing PD, provide an opportunity for the study of preclinical biomarkers. OBJECTIVE To assess SN echogenicity and other echographic features in LRRK2 G2019S carriers and(More)
BACKGROUND Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura, characterized by motor auras. The majority of FHM families have mutations in the CACNA1A and ATP1A2 genes; less than 5% of FHM families are explained by mutations in the SCN1A gene. Here we screened two Spanish FHM families for mutations in the FHM genes. (More)
In patients with Parkinson disease, pulsatile administration of dopaminergic drugs is associated with motor fluctuations and dyskinesias. By contrast, treatments that provide more continuous dopaminergic stimulation are associated with less intense motor complications. This can be achieved by using drugs with longer half-lives, delayed release formulations,(More)
To illustrate the potential of [I]-FP-CIT SPECT DaTSCAN® in investigating the progression of presynaptic dopaminergic degeneration in Huntington disease (HD), we performed a 2-year follow-up [I]-FP-CIT study on 4 HD patients, evaluating the SPECT imaging based on qualitative and semiquantitative analysis. The mean annual decline in [I]-FP-CIT uptake in(More)
Results The proband had life-long hemiplegic migraine attacks. At age 69, she had a prolonged episode of hemiplegia, which gradually resolved completely over the course of a month. Her father, one of her three children, and one of her grandsons were also affected by hemiplegic migraine, but with a much lower attack frequency. We identified a novel missense(More)
INTRODUCTION Impulse control disorders (ICD) constitute a complication that may arise during the course of Parkinson's disease (PD). Several factors have been linked to the development of these disorders, and their associated severe functional impairment requires specific and multidisciplinary management. The objective of this study was to evaluate the(More)
Many drugs may cause toxic injury to the lungs and the pleura. Cabergoline is an ergoline derivative which has been used in Spain for seven years to control symptoms of Parkinson's disease. We report a patient with dyspnea, bilateral pleural effusion and distal swelling. After a series of complementary tests (blood analysis, chest CT, echocardiogram,(More)