Descriptive analysis of the French NS-Park registry: Towards a nation-wide Parkinson's disease cohort?

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's. The French clinical research network for PD (NS-Park) has created a national patient registry to i)report medical activity of Parkinson Expert Centers (PECs) to the Ministry of Health, ii)facilitate PD patients pre-screening for clinical trials, iii) provide a source for pharmaco-epidemiology studies.

Objective: Assess the French Parkinsonian population at a nation-wide level and discover new clinical characteristics.

Early onset Parkinsonism associated with an intronic SOD1 mutation.

We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene.

Use of the Visual Object and Space Perception (VOSP) test battery in two cases of posterior cortical atrophy.

Two patients presenting with predominantly dorsal posterior cortical atrophy were evaluated using the Visual Object and Space Perception (VOSP) test. The objective was to determine whether the VOSP was useful to discriminate damage to the ventral and the dorsal visual pathways. Both patients failed almost all the VOSP subtests, and the battery did not permit confirmation of the integrity of the ventral pathway.

Gait and balance disorders in Parkinson's disease: impaired active braking of the fall of centre of gravity.

Gait and balance disorders are common in Parkinson's disease (PD), but its pathophysiology is still poorly understood. Step length, antero-posterior, and vertical velocities of the center of gravity (CG) during gait initiation were analyzed in 32 controls and 32 PD patients, with and without levodopa, using a force platform. Brain volumes and mesencephalic surface area were measured in PD patients.

Control of vertical components of gait during initiation of walking in normal adults and patients with progressive supranuclear palsy.

Gait and balance disorders are common in patients with parkinsonian syndromes, but the pathophysiology of these symptoms is still poorly understood. This study examined the initiation of gait in patients with progressive supranuclear palsy (PSP, n=10), characterized by the presence of severe postural instability, and controls (n=43). We used a force plate to measure the step length, and the antero-posterior and vertical velocities of the centre of gravity (CG) during gait initiation, in natural and fast gait conditions.

Hypermetabolism in ALS: correlations with clinical and paraclinical parameters.

Despite a reduction in fat-free mass (FFM), a hypermetabolism has been reported with an average of 10% in amyotrophic lateral sclerosis (ALS) patients as compared with a healthy population. The objectives of this study were to confirm the level of hypermetabolism determined by using indirect calorimetry in 168 patients with a probable or a definite ALS and to study correlations with survival. Consecutive evaluations of resting energy expenditure (REE) were performed from diagnosis to the proximity of death in 44 ALS patients.

Subthalamic stimulation in Parkinson disease: behavior and social adaptation.

Background: Bilateral subthalamic high-frequency stimulation significantly improves motor functions in patients with advanced forms of Parkinson disease (PD). This favorable effect contrasts with a growing number of reports that the treatment may result in psychiatric complications.

Objective: To analyze the presence of behavioral disorders and social maladjustment in PD patients successfully treated with continuous bilateral subthalamic stimulation.

Spirometer-dependence of vital capacity in ALS: validation of a portable device in 52 patients.

Since the evaluation of vital capacity (VC) needs to be carried out every three months in patients with amyotrophic lateral sclerosis (ALS), a portable spirometer would be of value in clinical practice. Over the follow-up of 52 ALS patients, we compared the values of slow vital capacity measured by two spirometers: a reference flow-metered spirometer based on a Hans-Rudolph pneumotachograph and a portable Venturi spirometer. The objectives were to analyse the overall concordance of the measurements from the two devices and determine a discordance cut-off.

Diagnostic value of nerve biopsy for atypical chronic inflammatory demyelinating polyneuropathy: evaluation of eight cases.

The diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) relies primarily on clinical and electrophysiologic examination, but the nerve biopsy findings may be supportive, especially in atypical cases. In order to define the usefulness of nerve biopsy in this disease, we retrospectively studied 44 consecutive patients whom we classified as having CIDP on pathological grounds. We found that 8 of these 44 patients had pathological findings indicative of CIDP but did not meet any of the usually accepted electrophysiological criteria for its diagnosis.