Case Report: Extent of the Clinical Spectrum for C9orf72 Mutation - From Frontotemporal Dementia to Autonomic Dysfunction

C9ORF72 gene mutation on chromosome 9 corresponding to a repetition of hexanucleotides (GGGGCC) xn is the most common mutation found in frontotemporal lobar dementia (FTLD) and amyotrophic lateral sclerosis (SLA) [1]. FTLD is characterized by an insidious onset with gradual evolution, a decline in social and interpersonal behaviors, self-regulation and control disturbances in personal behavior, emotional blunting and loss of introspection capabilities) but also behavioral disorders, disorders of speech and language.Literature is controversial about the relationship between multiple system atrophy (MSA) and the gene C9ORF72 mutation. We report the case of a 70-year old patient diagnosed with familial FTLD with C9ORF72 mutation in 2013 associated with cerebellar syndrome, visual hallucinations, and rapidly progressive symptoms suggestive of MSA.</p

Risque de transmission des prions lors de la prise en charge d’un patient suspect de maladie de Creutzfeldt-Jakob sporadique

Les maladies à prions ou encéphalopathies spongiformes subaiguës transmissibles (ESST) sont des maladies neurodégénatives dont l’issue est fatale. Il n’existe aucun test diagnostique fiable ni aucun traitement. Elles représentent de ce fait une préoccupation pour les professionnels de santé, en particulier pour la prévention de leur transmission. Les tissus dentaires, notamment la pulpe dentaire richement innervée et le tissu gingival, sont des tissus définis comme à faible risque d’infectiosité même, si à ce jour, aucun lien d’iatrogénie par la réalisation d’actes bucco-dentaires n’a été établi. La prise en charge d’un patient suspect de maladie de Creutzfeldt-Jakob sporadique dans le service de Médecine et Chirurgie buccales a nécessité la mise en place d’une organisation adaptée pour prévenir toute contamination et pour assurer la protection des professionnels de santé. Elle a été l’occasion de faire une mise au point sur les textes réglementaires et leur évolution. Lors de la prise en charge d’un patient pour la réalisation d’un acte bucco-dentaire, la prévention repose essentiellement sur l’évaluation du risque lié à la transmission de l’agent infectieux des EST et sur le respect scrupuleux des procédures d’hygiène et de stérilisation à appliquer pour l’unit dentaire et les dispositifs médicaux

Parkinsonian gait in elderly people: Significance of the threshold value of two and more falls per year.

Objectives: Parkinsonism in the elderly presents a major risk factor for recurrent falls (2 and more falls per year), which is associated with increased morbidity. The main objective was to investigate explanatory variables relating to the risk of being recurrent fallers (RF) in persons with parkinsonian gait.Methods: Seventy-nine among 172 eligible persons were enrolled in this prospective study, the findings of which were analyzed at 12 months. Motor and non-motor features, as well as follow-up interviews to identify falls, loss of ability to walk, fluctuating cognition, traumatic falls, all-cause hospitalizations and deaths were collated and results compared between non RF (zero and one fall per year) and RF. Bayesian model averaging was used to predict the probability of patients being RF from their medical history as well as from cognitive assessment, gait velocity, vision and posture.Results: N=79, 0.58 men, 50% had Parkinson's disease, 14% other neurodegenerative parkinsonian syndrome, 23% vascular parkinsonism and 13% Lewy body disease, 58% were RF. Median age 81.2 years and median MMSE 25/30. A history of falls and of hallucinations, median odds ratio respectively 9.06 (CI 2.34-38.22), 4.21 (CI 1.04-18.67) were associated with the highest odds ratios along with fluctuating cognition and abnormal posture. Two or more falls a year was a relevant threshold to distinguish a population with a high risk of comorbidity.Conclusion: The whole history of falls, hallucinations and fluctuating cognition can be considered predictive of recurrent falls in elderly people with parkinsonian gait and provide a tracking tool for patient management