Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

Background/aims: CAMTA1 mutations have recently been reported in families with intellectual disability and/or non-progressive congenital ataxias. The objective of this study was to describe the neuropsychological and neuroimaging phenotype of CAMTA1 mutation.

Methods: We performed neuropsychological examinations, MRI and FDG-PET imaging in three patients with autosomal dominant mild intellectual disabilities and ataxia induced by a CAMTA1 intragenic deletion at 1p36.

On the estimation and correction of bias in local atrophy estimations using example atrophy simulations.

Brain atrophy is considered an important marker of disease progression in many chronic neuro-degenerative diseases such as multiple sclerosis (MS). A great deal of attention is being paid toward developing tools that manipulate magnetic resonance (MR) images for obtaining an accurate estimate of atrophy. Nevertheless, artifacts in MR images, inaccuracies of intermediate steps and inadequacies of the mathematical model representing the physical brain volume change, make it rather difficult to obtain a precise and unbiased estimate.

Initial neuropsychological profile of a series of 20 patients with logopenic variant of primary progressive aphasia.

Background: Logopenic variant of primary progressive aphasia (LPPA) is classically considered as an isolated language disorder, but verbal short-term memory deficit induces difficulties in neuropsychological tests that are not intended to evaluate language.

Objective: The aim of this study is to describe the initial symptoms and neuropsychological profiles of LPPA.

Methods: A retrospective study was conducted with a series of 20 consecutive patients diagnosed with LPPA.

Validation of a new quality of life scale related to multiple sclerosis and relapses.

Purpose: Multiple sclerosis (MS) has a significant impact on all aspects of patient quality of life (QoL). Furthermore, the fear of relapses and the feelings of patients during relapses must be taken into account in care. The objective of this work was to validate the PERSEPP scale ("PERception de la Sclérose En Plaques et de ses Poussées"), a new QoL evaluation scale for relapsing-remitting forms of MS.

Conversion, dissociative amnesia, and Ganser syndrome in a case of "chameleon" syndrome: anatomo-functional findings.

The term "chameleon" was first used in the seventeenth century by Sydenham to describe a patient with a protean semiology. We report a single case of "chameleon" syndrome that challenges the current international criteria for somatoform disorders, dissociative amnesia, and Ganser syndrome. The florid symptoms were as follows: anterograde and retrograde amnesia (including semantic, episodic, and procedural deficits), loss of identity, atypical neuropsychological impairment (approximate answers), left sensitive and motor deficit, and left pseudochoreoathetosis movement disorders.

Logopenic syndrome in posterior cortical atrophy.

Few language disorders have been reported in posterior cortical atrophy (PCA). Furthermore, no study has focused on screening for them and described these language deficits. The goal of this work was to describe linguistic examination of PCA patients and the impact of language disorders on neuropsychological performances compared to patients with other neurodegenerative syndromes and control groups.

Fractional anisotropy in three variants of primary progressive aphasia.

Objective: Our aim was to report diffusion tensor imaging (DTI) patterns in three patients, each with a different primary progressive aphasia (PPA) variant.

Design: One agrammatic PPA, one semantic PPA, and one logopenic PPA subject underwent a magnetic resonance imaging examination including DTI sequences. The fractional anisotropy (FA) value was calculated in regions of interest (ROIs) involved in these three variants (perisylvian region, temporal pole, and parietotemporal junction) for each patient.

Transient improvement in sensorimotor conversion during post-anoxic encephalopathy with bilateral medial temporal ischemia.

We report the case of a patient with sensorimotor conversion that improved transiently during post-anoxic medial temporal ischemia inducing anterograde and retrograde amnesia. Symptoms reappeared in parallel with mnesic recovery. This case raises a hypothesis concerning the role of hippocampi and amygdalae, which are involved in emotionally-associated memory.

Fronto-striatal dysfunction in type 3 familial cortical myoclonic tremor epilepsy occurring during aging.

The aim of this work is to study the cognition, progressive gait impairment, and neuroimaging findings in two patients over 65 years old of the previously described type 3 familial cortical myoclonic tremor with epilepsy (FCMTE3). We report investigations in two of these five FCMTE3 subjects over 65 and showing progressive gait disorders. They both had a pseudo-Parkinson's way of walking and visual intolerance to bright light and brightness contrast without EEG abnormalities exacerbating cortical myoclonus or triggering seizure.

Longitudinal change detection in diffusion MRI using multivariate statistical testing on tensors.

This paper presents a longitudinal change detection framework for detecting relevant modifications in diffusion MRI, with application to neuromyelitis optica (NMO) and multiple sclerosis (MS). The core problem is to identify image regions that are significantly different between two scans. The proposed method is based on multivariate statistical testing which was initially introduced for tensor population comparison.

Social cognition impairments in relapsing-remitting multiple sclerosis.

Theory of Mind (ToM) is the ability to attribute independent mental states to self and others to explain and predict behavior. Impairment of ToM is well established in developmental pathologies. In neurological populations, investigation of ToM is still rare but data suggest that ToM impairment could contribute to behavioral and social disturbances.

Generalized likelihood ratio tests for change detection in diffusion tensor images: application to multiple sclerosis.

The automatic analysis of subtle changes between MRI scans is an important tool for monitoring disease evolution. Several methods have been proposed to detect changes in serial conventional MRI but few works have considered Diffusion Tensor Imaging (DTI), which is a promising modality for monitoring neurodegenerative disease and particularly Multiple Sclerosis (MS). In this paper, we introduce a comprehensive framework for detecting changes between two DTI acquisitions by considering different levels of representation of diffusion imaging, namely the Apparent Diffusion Coefficient (ADC) images, the diffusion tensor fields, and scalar images characterizing diffusion properties such as the fractional anisotropy and the mean diffusivity.

Bipolar disorder and dementia: where is the link?

Cognitive disorders appearing in the course of bipolar disease have been identified, and recent studies have defined the neuropsychological characteristics of this pathology, which includes attention, executive function, memory and language disorders. However, questions remain concerning the appearance of dementia symptoms over the course of bipolar disorder in certain patients: is it a chance association or is there a connection between bipolar disorders and dementia? If the latter hypothesis is considered, what is the nature of the dementia, which might be considered as a dementia specific to bipolar disorder? Current clinical, neuropsychological and cerebral imaging data are inconclusive, but similarities with frontotemporal dementia might be highlighted. Functional imaging studies might provide answers as well as more specific tests in neuropsychology.

Cancer and multiple sclerosis in the era of disease-modifying treatments.

Prior to the era of disease-modifying therapies (DMT), multiple sclerosis (MS) was linked to reduced rates of cancer. Early use of immunosuppressors (IS) in MS justifies the follow-up of patients to evaluate a possible increase in the incidence of cancer in these patients. We performed a descriptive study of MS patients with a documented oncological event.

Change detection in diffusion MRI using multivariate statistical testing on tensors.

This paper presents a longitudinal change detection framework for detecting relevant modifications in diffusion MRI, with application to Multiple Sclerosis (MS). The proposed method is based on multivariate statistical testings which were initially introduced for tensor population comparison. We use these methods in the context of longitudinal change detection by considering several strategies to build sets of tensors characterizing the variability of each voxel.

Association between clinical conversion to multiple sclerosis in radiologically isolated syndrome and magnetic resonance imaging, cerebrospinal fluid, and visual evoked potential: follow-up of 70 patients.

Background: Subclinical demyelinating lesions may occur in the brains of asymptomatic individuals.

Objective: To describe the clinical and magnetic resonance imaging (MRI) follow-up of patients with subclinical demyelinating lesions that fulfill the Barkhof/Tintoré criteria.

Design: Prospective study.

Rapid screening of cognitive change in patients with questionable dementia using the Memory Impairment Screen and the Isaacs Set Test.

Objectives: To assess the efficacy of combining the Memory Impairment Screen (MIS) and the Isaacs Set Test (IST) in predicting short-term development of dementia in a group of people with questionable dementia (QD) at baseline.

Design: Performances of the weighted sum of MIS and IST and the <> rule were compared with each other and with the Mini-Mental State Examination.

Setting: Database of the Regional Network for Diagnostic Aid and Management of Patients with Cognitive Impairment in the Franche-Comté geographical area in France.