Joseph A. Ghika

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The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD).(More)
INTRODUCTION Pain may be a presenting symptom of Parkinson's disease or may occur during the motor fluctuation stages of the disease. The complexity and pathophysiology of pain in Parkinson's disease still remains poorly understood. OBJECTIVE To characterize clinically the different painful presentations of Parkinson's disease, their relationship to the(More)
A series of 24 consecutive PD patients were prospectively studied prior to and within 6 months postoperatively for mood, motor, and cognitive status to investigate the effects on mood of subthalamic deep brain stimulation (DBS) in PD. In six patients (25%), mood state worsened significantly, and three were transiently suicidal despite clear motor(More)
BACKGROUND AND OBJECTIVE To study consecutive patients with acute or delayed hyperkinetic movement disorders in the Lausanne Stroke Registry. METHODS We have identified 29 patients with acute or delayed movement disorders among 2500 patients who had their first-ever acute stroke in the Lausanne Stroke Registry. SETTING Department of Neurology, Lausanne(More)
Since the recognition of white matter changes on CT (leukoaraiosis), rating scales for the location and severity of white matter changes have been developed, mainly for research purposes, to investigate factors such as the relation with cognition, risk factors, and pathology. The main purpose of rating scales is to provide scores that can be used in(More)
The authors observed a high rate of suicide (6/140 patients, 4.3%) in a large cohort of patients with movement disorders treated with deep brain stimulation (DBS). Apparent risk factors included a previous history of severe depression and multiple successive DBS surgeries, whereas there was no relationship with the underlying condition, DBS target,(More)
OBJECTIVE To study the reappearance of the clinical signs of PD when subthalamic nucleus (STN) deep brain stimulation (DBS) was turned off. METHOD The authors studied 35 patients treated with STN DBS 6.7 +/- 3.3 months (mean +/- SD) after implantation. All were clinically improved. Twenty-four had not required any antiparkinsonian medication for many(More)
OBJECTIVE To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP(More)
OBJECT The aim of this study was to evaluate the long-term safety and efficacy of bilateral contemporaneous deep brain stimulation (DBS) in patients who have levodopa-responsive parkinsonism with untreatable motor fluctuations. Bilateral pallidotomy carries a high risk of corticobulbar and cognitive dysfunction. Deep brain stimulation offers new(More)