Hemiplegic Migraine Associated With Variations: A Clinical and Genetic Study.

Background And Objective: variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.

Methods: was analyzed in 860 probands with hemiplegic migraine, and variations were identified in 30 probands.

Altered Inhibitory Mechanisms in Parkinson's Disease: Evidence From Lexical Decision and Simple Reaction Time Tasks.

Introduction: Although the motor signs of Parkinson's disease (PD) are well defined, nonmotor symptoms, including higher-level language deficits, have also been shown to be frequent in patients with PD. In the present study, we used a lexical decision task (LDT) to find out whether access to the mental lexicon is impaired in patients with PD, and whether task performance is affected by bradykinesia.

Materials And Methods: Participants were 34 nondemented patients with PD, either without () medication ( = 16) or under optimum () medication ( = 18).

Effect of linguistic context on the perception of consonants in Parkinsonian Read French speech.

We examined the effect of linguistic factors on the perceptual identification of intervocalic consonants produced by speakers with Parkinson's Diseases (PD). To neutralize the effect of preceding and following contexts, all the intervocalic consonants were excised with half the preceding and following vowels.We recorded 10 PD and 10 healthy speakers reading a text.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort.

, and are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of , and mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1,805 index cases (592 with autosomal dominant inheritance and 1,213 isolated cases) since 1990.

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Background: Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub.

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Background: Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches.

Methods: We first sequenced exons of and in the TS cohort and subsequently sequenced the exome of 12 individuals harboring rare variants in these genes to find additional rare variants contributing to the disorder under the hypothesis of oligogenic inheritance.

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.

Background: Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown.

Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.

Slowly progressive, levodopa-responsive multiple system atrophy (MSA) may be misdiagnosed as Parkinson's disease (PD). Deep brain stimulation (DBS) is mostly ineffective in these patients and may even worsen the clinical course. Here we assessed whether neuropathological differences between patients with MSA who were treated with DBS of the subthalamic nucleus because of a misleading clinical presentation and typical disease cases may explain the more benign disease course of the former, and also the rapid clinical decline after surgery.

Effects of cognitive impairment on prosodic parameters of speech production planning in multiple sclerosis.

Cognitive impairment (CI) affects 40-65% of patients with multiple sclerosis (MS). CI can have a negative impact on a patient's everyday activities, such as engaging in conversations. Speech production planning ability is crucial for successful verbal interactions and thus for preserving social and occupational skills.

Dysarthria in individuals with Parkinson's disease: a protocol for a binational, cross-sectional, case-controlled study in French and European Portuguese (FraLusoPark).

Introduction: Individuals with Parkinson's disease (PD) have to deal with several aspects of voice and speech decline and thus alteration of communication ability during the course of the disease. Among these communication impairments, 3 major challenges include: (1) dysarthria, consisting of orofacial motor dysfunction and dysprosody, which is linked to the neurodegenerative processes; (2) effects of the pharmacological treatment, which vary according to the disease stage; and (3) particular speech modifications that may be language-specific, that is, dependent on the language spoken by the patients. The main objective of the FraLusoPark project is to provide a thorough evaluation of changes in PD speech as a result of pharmacological treatment and disease duration in 2 different languages (French vs European Portuguese).

Quality of life in Parkinson's disease improved by apomorphine pump: the OPTIPUMP cohort study.

To report on OPTIPUMP, a cohort study, investigating the impact in real-life clinical settings of continuous subcutaneous apomorphine infusion (CSAI) on the quality of life (HRQoL) of patients with Parkinson's disease. OPTIPUMP was a prospective, open-label, observational cohort study involving 30 investigational sites in France. CSAI was proposed as part of routine clinical care to patients aged ≥18 years, in absence of dementia, with a PD diagnosis and based on the presence of motor fluctuations not controlled by oral treatments.

A combined pharmacokinetic/pharmacodynamic model of levodopa motor response and dyskinesia in Parkinson's disease patients.

Purpose: Levodopa is the reference treatment for Parkinson's disease. However, after several years of treatment, dyskinesia may occur and strategies to overcome this side effect still need to be explored. We identified a unique population pharmacokinetic/pharmacodynamic model in Parkinson's disease to investigate the relationship and dissociability of motor response and dyskinesia.

Outcome of deep brain stimulation in slowly progressive multiple system atrophy: A clinico-pathological series and review of the literature.

Objectives: To highlight the risk of clinical worsening after deep brain stimulation in histologically proven multiple system atrophy (MSA) patients presenting slow and relatively benign disease progression mimicking Parkinson's disease (PD). In such cases but also in more typical MSA patients, the results of deep brain stimulation have been mostly reported as case reports and small patient series.

Methods: The present study describes the outcome of the largest series of histologically proven MSA patients who underwent deep brain stimulation (DBS) of the subthalamic nucleus because they were considered as having PD at the time of surgery.

Theory of mind in Alzheimer disease: Evidence of authentic impairment during social interaction.

Objective: The present study aimed to investigate theory of mind (the ability to infer others' mental states) deficit in 20 patients with mild Alzheimer's disease and 20 healthy controls, with 2 theory of mind tasks, 1 of them being a real interactive task. Previous results concerning preserved or altered theory of mind abilities in Alzheimer's disease have been inconsistent and relationships with other cognitive dysfunctions (notably episodic memory and executive functions) are still unclear.

Method: The first task we used was a false belief paradigm as frequently used in literature whereas the second task, a referential communication task, assessed theory of mind in a real situation of interaction.

From micrographia to Parkinson's disease dysgraphia.

Micrographia, an abnormal reduction in writing size, is a specific behavioral deficit associated with Parkinson's disease (PD). In recent years, the availability of graphic tablets has made it possible to study micrographia in unprecedented detail. Consequently, a growing number of studies show that PD patients also exhibit impaired handwriting kinematics.

[F0 characteristics in Parkinsonian speech: Contrast between the effect of hypodopaminergy due to Parkinson's disease and that of the therapeutic delivery of L-Dopa].

Voice and speech impairments are frequent in Parkinson's disease, particularly when the disease is at an advanced stage. These impairments affect spoken communication and may become a serious disability for someone with Parkinson's disease. Many studies based on auditory-perceptual or acoustic methods have been carried out to characterize dysarthria.

Withdrawing amantadine in dyskinetic patients with Parkinson disease: the AMANDYSK trial.

Objective: The AMANDYSK trial was designed to assess long-term efficacy of chronic treatment with amantadine in patients with Parkinson disease (PD) and levodopa-induced dyskinesia (LID).

Methods: This was a 3-month, multicenter, randomized, double-blind, placebo-controlled, parallel-group, wash-out study conducted in 57 amantadine-treated (≥200 mg/d for ≥6 months) dyskinetic patients with PD. The primary outcome measure was the change from baseline in a Unified Parkinson's Disease Rating Scale (UPDRS) dyskinesia subscore (items 32 [duration] + 33 [severity]).

Using memories to understand others: the role of episodic memory in theory of mind impairment in Alzheimer disease.

Theory of mind (TOM) refers to the ability to infer one's own and other's mental states. Growing evidence highlighted the presence of impairment on the most complex TOM tasks in Alzheimer disease (AD). However, how TOM deficit is related to other cognitive dysfunctions and more specifically to episodic memory impairment - the prominent feature of this disease - is still under debate.

The dysarthria impact profile: a preliminary French experience with Parkinson's disease.

This preliminary study aimed to adapt the Dysarthria Impact Profile (DIP) in French and to confirm its relevance for the assessment of the psychosocial impact of dysarthria in Parkinson's disease (PD). The DIP scale was administered to 10 people with PD and 10 age-matched control subjects. The DIP psychometric properties were calculated (discriminant validity, internal consistency, and concurrent validity), notably by using the Voice Handicap Index (VHI) for interscale comparisons.

Evaluation of the safety and tolerability of rasagiline in the treatment of the early stages of Parkinson's disease.

Objective: Rasagiline is a second-generation, irreversible MAO-B inhibitor (MAOB-I) previously shown to be efficacious and well-tolerated compared to placebo in the treatment of early Parkinson's disease (PD). ACTOR (ACceptabilité TOlérance Rasagiline) was a 15-week, multi-center, randomized, double-blind study aimed to assess the safety and tolerability of rasagiline compared to the dopaminergic agonist pramipexole in the treatment of early PD.

Methods: Patients with early, untreated idiopathic PD were randomized to receive 1 mg rasagiline (n = 53) or 1.

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Mutations in the eukaryotic translation initiation factor 4-gamma (EIF4G1) gene, encoding a component of the eIF4F translation initiation complex, were recently reported as a possible cause for the autosomal dominant form of Parkinson's disease (PD). Here, we describe the screening of all 31 EIF4G1 coding exons in a series of 251 index cases with autosomal dominant PD, mostly of French origin and in 236 European control subjects. We identified 12 rare coding variants (either nonsynonymous amino acid substitutions or in frame deletions/insertions), including 6 variants present only in cases and 3 in controls.