Apport du test de mémoire sémantique 42 items (TMS-42) en consultation mémoire

International audienc

Assessment of semantic memory with the SMT-42

International audienc

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations

Démences : où sont les corps de Lewy ?

La démence à corps de Lewy (DCL) est la deuxième cause de démence dégénérative du sujet âgé, dans les grandes séries autopsiques. Dans la réalité quotidienne des centres mémoire pourtant, la DCL représente une faible proportion des diagnostics cliniques, avec une forte disparité entre les centres. Plusieurs raisons peuvent rendre compte de la faible sensibilité du diagnostic de DCL : l’imprécision et la subjectivité des critères diagnostiques existants ; la place insuffisante donnée à certains signes non-moteurs (troubles du comportement en sommeil paradoxal, dysautonomie) ; enfin et surtout l’association quasi constante de la pathologie de Lewy à une pathologie de type Alzheimer, qui domine rapidement le phénotype clinique. À l’heure de l’essor des thérapies ciblées contre les agrégats protéiques, de nouvelles échelles cliniques permettant d’appréhender la coexistence de la pathologie de Lewy dans la maladie d’Alzheimer sont plus que jamais nécessaires

Neurobiol Aging

GRN mutations are frequent causes of familial frontotemporal degeneration. Although there is no clear consensual threshold, plasma progranulin levels represent an efficient biomarker for predicting GRN mutations when decreased. We evaluated plasma levels to determine whether it could also predict age at onset, clinical phenotype, or disease progression in 160 GRN carriers. Importantly, progranulin levels were influenced by gender, with lower levels in male than in female patients in our study. Although we found no correlation with age at onset or with clinical phenotype, we confirmed that decreased level predicts GRN mutations, even in presymptomatic carriers more than four decades before disease onset. We also provided first evidence for the stability of levels throughout longitudinal trajectory in carriers, over a 4-year time span. Finally, we confirmed that progranulin levels constitute a reliable, cost-effective marker, suitable as a screening tool in patients with familial frontotemporal degeneration, and more broadly in patients without family history or with atypical presentations who are less likely to be referred for molecular diagnosis

Dementia Caregiver Burden: A Research Update and Critical Analysis

Purpose of Review: This article provides an updated review of the determinants of caregiver burden and depression, with a focus on care demands and especially the differential effects of various neuropsychiatric symptoms or symptom clusters. Moreover, studies on caregivers for frontotemporal and Lewy body dementias were referred to in order to identify differences and similarities with the mainstream literature based largely on Alzheimer caregivers. Recent Findings: As a group, neuropsychiatric symptoms are most predictive of caregiver burden and depression regardless of dementia diagnosis, but the effects appear to be driven primarily by disruptive behaviors (e.g., agitation, aggression, disinhibition), followed by delusions and mood disturbance. Disruptive behaviors are more disturbing partly because of the adverse impact on the emotional connection between the caregiver and the care-recipient and partly because they exacerbate difficulties in other domains (e.g., caring for activities of daily living). In behavioral variant frontotemporal dementia, not only are these disruptive behaviors more prominent but they are also more disturbing due to the care-recipient’s insensitivity to others’ feelings. In Lewy body dementia, visual hallucinations also appear to be distressing. Summary: The disturbing nature of disruptive behaviors cuts across dementia conditions, but the roles played by symptoms that are unique or particularly serious in a certain condition need to be explored further

Journées d’enseignement supérieur de neurologie – Nantes 2016

National audienceno abstrac

J Alzheimers Dis

BACKGROUND: The frontal variant of Alzheimer's disease (fAD) is poorly understood and poorly defined. The diagnosis remains challenging. The main differential diagnosis is the behavioral variant of frontotemporal degeneration (bvFTD). For fAD, there is some dissociation between the clinical frontal presentation and imaging and neuropathological studies, which do not always find a specific involvement of the frontal lobes. DAPHNE is a behavioral scale, which demonstrated excellent performance to distinguish between bvFTD and AD. OBJECTIVE: The aim of the present study was to assess the reliability of this new tool to improve the clinical diagnosis of fAD. METHODS: Twenty fAD patients and their caregivers were prospectively included and were compared with 36 bvFTD and 22 AD patients. RESULTS: The three main behavioral disorders in the fAD patients were apathy, loss of empathy, and disinhibition. Three disorders were discriminant because they were less frequent and less severe in the fAD patients than in the bvFTD patients, namely hyperorality, neglect, and perseverations. This specific pattern of behavioral disorders was corroborated by SPECT or 18FDG PET-CT scan that showed that patients with fAD could have a medial frontal hypoperfusion, whereas in bvFTD patients the orbitofrontal cortex was the main involved region, with more diffuse hypoperfusion. CONCLUSION: We demonstrated that DAPHNE had good sensitivity and good specificity to discriminate between the three groups and in particular between fAD and bvFTD patients. DAPHNE is a quick tool that could help clinicians in memory clinics not only to differentiate bvFTD from typical AD but also from fAD

DAPHNE: A New Tool for the Assessment of the Behavioral Variant of Frontotemporal Dementia.

International audienc