Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.

International audienceBACKGROUND: Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 gene was recently identified as being responsible for over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration, in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration, and in addition, has been found to be a rare genetic cause of isolated Parkinsonism. To our knowledge, there is no published data concerning the neuropsychological evaluation of patients diagnosed with idiopathic Parkinson's disease related with C9ORF72 repeat expansions. CASE PRESENTATION: We report the results of the comprehensive neuropsychological evaluation in a newly described case in the literature (the sixth) of a patient presenting isolated idiopathic Parkinson's disease associated with C9ORF72 repeat expansions.The decrease in the patient's prefrontal functions resulted in a slight decrease in global efficiency. These abnormalities did not appear to be different, with respect to the deficit observed and the intensity of the cognitive impairment, from those classically observed in cases of sporadic idiopathic Parkinson's disease. Our patient also exhibited a significant impairment in visual gnosis. CONCLUSIONS: If confirmed in other patients, visuoperceptive deficits in idiopathic Parkinson's disease could represent a red flag that should prompt the clinician to perform addition diagnostic procedures. A thorough neuropsychological assessment may prove to be useful for detecting idiopathic Parkinson's disease in patients who are suspected of having repeat abnormalities of C9ORF72 expansions

Repetitive Behaviours in Patients with Gilles de la Tourette Syndrome: Tics, Compulsions, or Both?

Background Repetitive behaviours (RB) in patients with Gilles de la Tourette syndrome (GTS) are frequent. However, a controversy persists whether they are manifestations of obssessive-compulsive disorder (OCD) or correspond to complex tics. Methods 166 consecutive patients with GTS aged 15–68 years were recruited and submitted to extensive neurological, psychiatric and psychological evaluations. RB were evaluated by the YBOCS symptom checklist and Mini International Neuropsychiatric Interview (M.I.N.I), and classified on the basis of a semi-directive psychiatric interview as compulsions or tics. Results RB were present in 64.4% of patients with GTS (107/166) and categorised into 3 major groups: a ‘tic-like’ group (24.3%–40/166) characterised by RB such as touching, counting, ‘just right’ and symmetry searching; an ‘OCD-like’ group (20.5%–34/166) with washing and checking rituals; and a ‘mixed’ group (13.2%–22/166) with both ‘tics-like’ and ‘OCD-like’ types of RB present in the same patient. In 6.3% of patients, RB could not be classified into any of these groups and were thus considered ‘undetermined’. Conclusions The results confirm the phenomenological heterogeneity of RB in GTS patients and allows to distinguish two types: tic-like behaviours which are very likely an integral part of GTS; and OCD-like behaviours, which can be considered as a comorbid condition of GTS and were correlated with higher score of complex tics, neuroleptic and SSRIs treatment frequency and less successful socio-professional adaptation. We suggest that a meticulous semiological analysis of RB in GTS patients will help to tailor treatment and allow to better classify patients for future pathophysiologic studies. Trial Registration ClinicalTrials.gov NCT0016935

Phenotypic study of extrapyramidal dementia : interest of neuropsychology to differenciate diseases.

Les situations cliniques associant des troubles moteurs et une détérioration cognitive sont fréquentes et déroutantes pour le clinicien, qui est confronté à la difficile question du diagnostic différentiel entre plusieurs cadres nosographiques dont la maladie de Parkinson avec démence (MPD) et la démence à corps de Lewy Diffus (DCLD). Dans ce travail, nous avons étudié les caractéristiques neuropsychologiques pouvant différencier les deux affections. Nous avons, dans une première étude, montré que la mémoire de reconnaissance visuelle était altérée de façon différente. Dans un second travail, nous avons spécifié les caractéristiques de ces altérations en les rapprochant des classiques profils « cortical » et « sous cortical » de démence. Nous avons ainsi montré que la MPD présentait une altération de la mémoire de reconnaissance visuelle intermédiaire entre la Maladie d’Alzheimer et la DCLD. Enfin, dans une dernière partie, nous proposons des perspectives de recherche dans la continuité de ces travaux.Clinical manifestations associating motor and cognitive impairment are frequently encountered and difficult for the clinician who is required to address the problem of making the correct differential diagnosis, particularly to differentiate Parkinson's disease with dementia (PDD) from Lewy bodies dementia (LBD). In this study, we examined the neuropsychological characteristics which allow us to differentiate the two disorders. In the first study, we demonstrated that visual recognition memory is disturbed differently in the two cases. In a second study, we specified the characterisstics of the modifications encountered by using the classic "cortical" and "subcortical" dementia profiles. We also showed that, in PDD, the alteration in visual recognition memory is intermediary between Alzheimer's disease and LBD. Finally, in the last part of our study, we suggest future avenues of research needed to complete our work

Effet de l'âge et du niveau éducationnel sur les processus cognitifs sous-tendant l'accès au sens des pictogrammes

TOURS-BU Médecine (372612103) / SudocSudocFranceF

Etude préliminaire (stratégies d'ajustement dans la dystrophie de Steinert (forme adulte))

TOURS-BU Médecine (372612103) / SudocSudocFranceF

Démence avec corps de Lewy et maladie de Parkinson avec démence (une ou deux maladies ?)

TOURS-BU Médecine (372612103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Stratégies de repérage de la Maladie d'Alzheimer et des démences apparentées par les médecins généralistes d'Indre-Et-Loire (utilité des recommandations et variabilité inter-examinateurs du MMSE)

TOURS-BU Médecine (372612103) / SudocSudocFranceF

Etude phénotypique des démences extrapyramidales (apport de la neuropsychologie dans le diagnostic différentiel.)

Les situations cliniques associant des troubles moteurs et une détérioration cognitive sont fréquentes et déroutantes pour le clinicien, qui est confronté à la difficile question du diagnostic différentiel entre plusieurs cadres nosographiques dont la maladie de Parkinson avec démence (MPD) et la démence à corps de Lewy Diffus (DCLD). Dans ce travail, nous avons étudié les caractéristiques neuropsychologiques pouvant différencier les deux affections. Nous avons, dans une première étude, montré que la mémoire de reconnaissance visuelle était altérée de façon différente. Dans un second travail, nous avons spécifié les caractéristiques de ces altérations en les rapprochant des classiques profils cortical et sous cortical de démence. Nous avons ainsi montré que la MPD présentait une altération de la mémoire de reconnaissance visuelle intermédiaire entre la Maladie d Alzheimer et la DCLD. Enfin, dans une dernière partie, nous proposons des perspectives de recherche dans la continuité de ces travaux.Clinical manifestations associating motor and cognitive impairment are frequently encountered and difficult for the clinician who is required to address the problem of making the correct differential diagnosis, particularly to differentiate Parkinson's disease with dementia (PDD) from Lewy bodies dementia (LBD). In this study, we examined the neuropsychological characteristics which allow us to differentiate the two disorders. In the first study, we demonstrated that visual recognition memory is disturbed differently in the two cases. In a second study, we specified the characterisstics of the modifications encountered by using the classic "cortical" and "subcortical" dementia profiles. We also showed that, in PDD, the alteration in visual recognition memory is intermediary between Alzheimer's disease and LBD. Finally, in the last part of our study, we suggest future avenues of research needed to complete our work.TOURS-Bibl.électronique (372610011) / SudocSudocFranceF

Abrupt onset of disturbed vigilance, bilateral third nerve palsy and masturbating behaviour: a rare presentation of stroke

The clinical presentation of stroke usually includes sensory–motor impairment, cranial nerve palsies, or cognitive dysfunction. Disorders in behaviour are less frequently seen. The case of a patient with a very disturbing presentation, which included a disturbance in vigilance, bilateral third nerve palsy and masturbating behaviour, is presented. The topography of the lesions and its implications on the deficits observed are discussed