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Soisy-sous-Montmorency, France

Lesage S.,University Pierre and Marie Curie | Le Ber I.,University Pierre and Marie Curie | Le Ber I.,Center National Of Reference Des Demences Rares | Condroyer C.,University Pierre and Marie Curie | And 10 more authors.

The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations. As several forms of these disorders are associated with parkinsonism, we hypothesized that some patients with Parkinson's disease or other forms of parkinsonism might carry pathogenic C9orf72 expansions. Therefore, we looked for C9orf72 repeat expansions in 1446 unrelated parkinsonian patients consisting of 1225 patients clinically diagnosed with Parkinson's disease, 123 with progressive supranuclear palsy, 21 with corticobasal degeneration syndrome, 43 with Lewy body dementia and 25 with multiple system atrophy-parkinsonism. Of the 1446 parkinsonian patients, five carried C9orf72 expansions: three patients with typical Parkinson's disease, one with corticobasal degeneration syndrome and another with progressive supranuclear palsy. This study shows that (i) although rare, C9orf72 repeat expansions may be associated with clinically typical Parkinson's disease and also with other parkinsonism; (ii) in several patients, parkinsonism was levodopa-responsive and remained pure, without associated dementia, for >10 years and (iii) interestingly, all C9orf72 repeat expansion carriers had positive family histories of parkinsonism, degenerative dementias or amyotrophic lateral sclerosis. This study also provides the tools for identifying parkinsonian patients with C9orf72 expansions, with important consequences for genetic counselling. © 2013 The Author. Source

Mulin E.,University of Nice Sophia Antipolis | Mulin E.,Center Memoire Of Ressources Et Of Recherche | Zeitzer J.M.,Stanford University | Friedman L.,Stanford University | And 4 more authors.
Journal of Alzheimer's Disease

Apathy is the most frequently reported neuropsychiatric symptom across all stages of Alzheimer's disease (AD). Both apathy and sleep disorders are known to have independent negative effects on the quality of life in individuals with AD. The aim of this study was to assess the relationship between apathy and sleep/wake patterns in individuals with AD using ambulatory actigraphy. One hundred and three non-institutionalized individuals with AD wore a wrist actigraph continuously over seven consecutive 24-h periods. Apathy was assessed using the Neuropsychiatric Inventory. Daytime mean motor activity (dMMA) was calculated from daytime wrist actigraphy data. Actigraphic parameters of sleep included total sleep time (TST), wake after sleep onset (WASO), time in bed (TIB), WASO normalized by TIB, sleep latency, and nighttime mean motor activity (nMMA). Among the 103 individuals with AD (aged 76.9 ± 7.2 years; MMSE = 21.4 ± 4.3), those with apathy had significantly lower dMMA, higher WASO (both raw and normalized), and spent more time in bed during the night than those without apathy. Sleep latency, nMMA and TST did not differ significantly between the two subgroups. To our knowledge, this study is the first to identify a relationship between apathy and sleep disturbance in those with mild or moderate AD: apathy was associated with increased TIB during the night and more WASO. These results suggest that AD patients with apathy have less consolidated nocturnal sleep than those without apathy. © 2011 - IOS Press and the authors. All rights reserved. Source

Robert P.H.,Center Memoire Of Ressources Et Of Recherche | Mulin E.,University of Nice Sophia Antipolis | Leone E.,University of Nice Sophia Antipolis | David R.,University of Nice Sophia Antipolis
Revue de Geriatrie

Apathy is an important behavioural syndrome in Alzheimer's disease and in various neuropsychiatric and geriatric disorders. In light of recent research and the renewed interest in the correlates and impacts of apathy, and in its treatments, it is important to develop diagnostic criteria that could be widely accepted, and easily applied in practice and research settings. Meeting these needs is the focus of the task force work of the "Association Française de Psychiatrie Biologique", the European Psychiatric Association, the European Alzheimer's Disease Consortium and experts from Europe, Australia and North America). Apathy is defined as a disorder of motivation that persists over time and should meet the following requirements. Firstly, the core feature of apathy, diminished motivation, must be present for at least four weeks; secondly two of the three dimensions of apathy (reduced goal-directed behaviour, goal-directed cognitive activity, and emotions) must also be present; thirdly there should be identifiable functional impairments attributable to the apathy. Finally, exclusion criteria are specified to exclude symptoms and states that mimic apathy. © La Revue de Gériatrie. Source

Planche V.,Service de Neurologie | Gibelin M.,Reseau NeuroSEP Auvergne | Cregut D.,Center Memoire Of Ressources Et Of Recherche | Pereira B.,Delegation a la recherche clinique et a linnovation | And 3 more authors.
European Journal of Neurology

Background and purpose: Few studies have investigated the differences in cognitive skills between the three subtypes of multiple sclerosis (MS) and they confounded the course of the disease with the duration of the disease and the physical disability. Moreover, they were not population based. Methods: This was a retrospective analysis of cognitive testing from the database of a French programme for MS care. The pattern and the frequency of cognitive impairment in secondary progressive (SP), primary progressive (PP) and late relapsing-remitting (LRR, disease duration of more than 10 years) MS were compared. Results: A total of 101 patients with MS (41 LRRMS, 37 SPMS, 23 PPMS) were included. 63.0% had a significant cognitive impairment. After controlling for age, sex, Expanded Disability Status Scale, disease duration and education level, patients with SPMS were at least 2-fold more frequently impaired than patients with LLRMS in information processing speed (P = 0.005), executive functions (P = 0.04), verbal fluency (P = 0.02), verbal episodic memory (P = 0.04), working memory (P = 0.02) and visuospatial construction (P = 0.01). The number of patients with at least one or two deficient cognitive domain(s) was higher in the SPMS group than in the LRRMS group (P = 0.002 and P < 0.001). Patients with PPMS were more frequently impaired in verbal fluency (P = 0.046) than patients with LRRMS and they more often presented at least one impaired cognitive domain (P = 0.03). SPMS and PPMS groups differed only for visuospatial construction (P = 0.02). Conclusion: In this population-based study, patients with a progressive subtype of MS were more frequently and more severely impaired than patients with RRMS, even after more than 10 years of disease. © 2016 European Academy of Neurology. Source

Delphin-Combe F.,Center Memoire Of Ressources Et Of Recherche | Rouch I.,Center Memoire Of Ressources Et Of Recherche | Martin-Gaujard G.,Center Memoire Of Ressources Et Of Recherche | Relland S.,Center Memoire Of Ressources Et Of Recherche | And 2 more authors.
Geriatrie et Psychologie Neuropsychiatrie du Vieillissement

An innovative non-pharmacological intervention called Voix d'Or® (Golden Voice) was proposed in the Cognitive behavioral unit (CBU) of the Memory center at the Hospices civils in Lyon. Voix d'Or® offers eight sound activities disseminated via an audio device based on different approaches sociotherapeutic (music therapy, reminiscence, relaxation, reorientation in reality). The aim of this study was to test the effects of the Voix d'Or® program on behavioral and psychological symptoms of dementia (BPSD) in patients with Alzheimer's disease hospitalized in the CBU. Twenty four patients with agitation and/or apathy and/or anxiety and/or depression were included. Patients were randomly selected in the intervention group exposed to Voix d'Or versus a control group exposed to usual occupational activities. Patients were assessed before (T0) and after (T1) the intervention period. Several variables were measured: frequency and severity of behavioral disorders, anxiety, depression, agitation and apathy. A significant improvement of anxiety level between T0 and T1was observed in the group with Voix d'Or® compared to the control group. This study suggests that this non-pharmacological intervention may be beneficial on anxiety in patients with Alzheimer's disease. Copyright © 2007 John Libbey Eurotext - All rights reserved. Source

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