Search results for "Frontotemporal Dementia"

Subventricular zone in motor neuron disease with frontotemporal dementia.

2011

Investigate how the subventricular proliferation and organisation is modified in a patient with FTLD-ALS. We studied the subventricular zone (SVZ) of a patient with FTLD-ALS immunohistochemical and histologically. We found an increase of Ki-67 positive cells and neuroblast in the subventricular zone, suggesting an activation of proliferating activity in response to FTD-ALS. This proliferation can act as a compensatory mechanism for rapid neuronal death and its modulation could provide a new therapeutic pathway in ALS. These results suggest a modification of neurogenesis in FTD-ALS. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)

2012

Objective: To assess the frequency and the phenotype of a large series of Italian sALS and fALS with C9ORF72 repeat expansions. Background Recently we found that large expansions of hexanucleotide repeats (GGGGCC) in the first intron of the C9ORF72 gene, located in the chromosome 9p21, are related to familial and sporadic ALS cases(Renton et al, 2011). Design/Methods: We assessed 126 index fALS (106 Italians, 20 of Sardinians) and 601 sALS (485 Italians, 116 Sardinians), negative for other ALS-related genes mutations. Patients were collected through the ITALSGEN consortium. Repeat primer PCR to screen the presence of the hexanucleotide expansion in the first intron of C9ORF72 have been perf…

Voluntary Imitation in Alzheimer’s Disease Patients

2016

International audience; Although Alzheimer's disease (AD) primarily manifests as cognitive deficits, the implicit sensorimotor processes that underlie social interactions, such as automatic imitation, seem to be preserved in mild and moderate stages of the disease, as is the ability to communicate with other persons. Nevertheless, when AD patients face more challenging tasks, which do not rely on automatic processes but on explicit voluntary mechanisms and require the patient to pay attention to external events, the cognitive deficits resulting from the disease might negatively affect patients' behavior. The aim of the present study was to investigate whether voluntary motor imitation, i.e.…

Thalamic stroke mimicking frontotemporal dementia: a case report

2012

Background: The behavioral variant of frontotemporal dementia (bvFTD) is characterized by changes of personality, social behavior and cognition and relies on a neurodegenerative process. However, vascular lesions affecting subcortical structures may result in a clinical syndrome resembling bvFTD. Objective: To describe a case of thalamic stroke resulting in frontal dementia. Case report: A 58-year-old man was referred to our hospital because of behavioral and cognitive changes formerly diagnosed as bvFTD. In 2010, he suddenly presented loss of consciousness and in the next days he developed amnesia, apathy and personality changes. Toxicological exams, CSF analysis and CT scan were normal at…

2015

Sir, We read with interest the scientific commentary by Hornberger and Bertoux (2015) on our study on the specificity of prefrontal cortex subregions for strategy use, verbal initiation and suppression (Robinson et al. , 2015). We administered Section 1 and 2 of the Hayling sentence completion task (Burgess and Shallice, 1997) to a large group of frontal and posterior patients. Section 1, assessing verbal initiation, requires the subject to complete sentences with an appropriate word (e.g. ‘ The captain stayed with the sinking …’ could be completed by saying ‘ ship ’). Section 2, assessing inhibition/suppression, requires the completion of sentences with an unconnected word (e.g. ‘ London i…

Mild cognitive impairment: A systematic review

2007

MCI is a nosological entity proposed as an intermediate state between normal aging and dementia. The syndrome can be divided into two broad subtypes: amnestic MCI ( aMCI) characterized by reduced memory, and non- amnestic MCI ( naMCI) in which other cognitive functions rather than memory are mostly impaired. aMCI seems to represent an early stage of AD, while the outcomes of the naMCI subtypes appear more heterogeneous - including vascular dementia, frontotemporal dementia or dementia with Lewy bodies- but this aspect is still under debate. MCI in fact represents a condition with multiple sources of heterogeneity, including clinical presentation, etiology, and prognosis. To improve classifi…

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

2013

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…

Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar de generation. Pla…

2009