Transient coma as Percheron’s artery stroke

The artery of Percheron is a rare anatomic variation in the brain vascularization, in which a single arterial trunk arises from the posterior cerebral artery to supply both sides of brain structures, i.e., the thalamus and midbrain. Occlusion of this uncommon vessel results in a characteristic pattern of bilateral paramedian thalamic infarcts with or without mesencephalic infarctions. We report the case of a Caucasian woman who completely recovers after transient coma due to Percheron artery infarction

Bilateral tunnel vision as the first presenting sign of levamisole-induced vasculitis

Levamisole-contaminated cocaine is an increasingly reported cause of a syndrome characterized by vasculitic skin lesions and immunologic abnormalities. With approximately 70% of cocaine in the United States now contaminated with levamisole, the incidence of this syndrome is likely to increase. We report the case of a 42 years-old Caucasian woman who presented with fronto-temporal pulsating headache and progressive bilateral loss of vision.

Cognitive reserve in granulin-related frontotemporal dementia: from preclinical to clinical stages

OBJECTIVE Consistent with the cognitive reserve hypothesis, higher education and occupation attainments may help persons with neurodegenerative dementias to better withstand neuropathology before developing cognitive impairment. We tested here the cognitive reserve hypothesis in patients with frontotemporal dementia (FTD), with or without pathogenetic granulin mutations (GRN+ and GRN-), and in presymptomatic GRN mutation carriers (aGRN+). METHODS Education and occupation attainments were assessed and combined to define Reserve Index (RI) in 32 FTD patients, i.e. 12 GRN+ and 20 GRN-, and in 17 aGRN+. Changes in functional connectivity were estimated by resting state fMRI, focusing on the salience network (SN), executive network (EN) and bilateral frontoparietal networks (FPNs). Cognitive status was measured by FTD-modified Clinical Dementia Rating Scale. RESULTS In FTD patients higher level of premorbid cognitive reserve was associated with reduced connectivity within the SN and the EN. EN was more involved in FTD patients without GRN mutations, while SN was more affected in GRN pathology. In aGRN+, cognitive reserve was associated with reduced SN. CONCLUSIONS This study suggests that cognitive reserve modulates functional connectivity in patients with FTD, even in monogenic disease. In GRN inherited FTD, cognitive reserve mechanisms operate even in presymptomatic to clinical stages

L’istituzionalizzazione della persona affetta da demenza: una ricerca qualitativa sull’esperienza decisionale del caregiver informale

AIM AND OBJECTIVES: analyze the reasons that led the informal caregiver of a person with dementia to the choice of institutionalization, the impact of this decision on the carer and the usefulness of any professional support interventions during this delicate phase.  BACKGROUND: The increase in life expectancy is causing a rapid numerical growth of the elderly population, with an associated increase in the prevalence of chronic and neurodegenerative diseases such as dementia. The decline in cognitive functions and the inevitable impact of dementia on the quality of life also have serious effects on the family and on the informal caregiver with the consequent need for institutionalization in nursing homes (RSA).  METHOD: the survey was conducted in four nursing homes in Val Camonica (BS), 25 caregivers who met the criteria for inclusion in the study were interviewed. Qualitative research was implemented, a semi-structured interview was used as a tool.  RESULTS: Among the main causes of this decision were the worsening of the cognitive deficit, the appearance of behavioral disorders of the person with dementia and consequent high levels of psychological stress on the caregiver in addition to the significant impact of the disease on the quality of life for the family unit and in the social context. The existence of professional interventions to support the caregiver appears to be little known among the study participants and therefore scarcely relevant to the well-being of both the informal assistant and the person with dementia.  CONCLUSIONS: It is important that health professionals provide both practical and psychological support to caregivers both during home care and in the transition to institutional care. This should be delivered by multiple professionals who work as a team for a multidisciplinary assessment.  KEYWORDS: Dementia, Caregiver, Institutionalization OBIETTIVI: analizzare i motivi, familiari e personali, che hanno condotto il caregiver informale di una persona affetta da demenza cognitiva alla scelta dell’istituzionalizzazione, l’impatto di questa decisione sul carer stesso e l’utilità di eventuali interventi di supporto professionale durante questa fase delicata.  BACKGROUND: L’aumento dell’aspettativa di vita sta determinando una rapida crescita numerica della popolazione anziana, con associato aumento della prevalenza di malattie croniche e neurodegenerative come la demenza. Il declino delle funzioni cognitive e l’inevitabile impatto della demenza sulla qualità di vita determinano effetti gravosi anche sulla famiglia e sul caregiver informale con conseguente necessità di istituzionalizzazione nelle residenze sanitarie assistenziali (RSA).  METODO: l’indagine è stata condotta in quattro RSA della media valle Camonica (BS), sono stati intervistati 25 caregiver che rispondevano ai criteri d’inclusione nello studio. È stata implementata una ricerca qualitativa, come strumento è stata utilizzata un’intervista semi strutturata.  RISULTATI: Tra le principali cause di tale decisione sono emersi il peggioramento del deficit cognitivo, la comparsa di disturbi comportamentali della persona affetta da demenza e conseguenti elevati livelli di stress psicologico a carico del caregiver oltre all’impatto rilevante della malattia sulla qualità della vita per il nucleo familiare e nel contesto sociale. L’esistenza di interventi professionali di supporto al caregiver risulta essere poco conosciuta tra i partecipanti allo studio e quindi scarsamente rilevante sul benessere sia dell’assistente informale che della persona affetta da demenza.  CONCLUSIONI: È importante che gli operatori sanitari forniscano un supporto sia pratico che psicologico ai caregiver sia durante l’assistenza domiciliare che nella transizione verso le cure istituzionali. Questo dovrebbe essere erogato da molteplici figure professionali che lavorano in equipe per una valutazione multidisciplinare.  PAROLE CHIAVE: Demenza, Caregiver, Istituzionalizzazione.&nbsp

Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia

Neurodegenerative cerebellar ataxias represent a group of disabling disorders for which we currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique, which has been demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias

Beyond cognitive reserve: behavioural reserve hypothesis in Frontotemporal Dementia

The brain reserve hypothesis posits that there are individual differences in the ability to cope with brain pathology, and that brain damage extent and clinical symptoms are not tightly linked. If cognitive reserve hypothesis has been demonstrated in Alzheimer Disease and Frontotemporal Dementia (FTD), no evidence of reserve mechanisms on behavioural disturbances has been corroborated yet. In FTD, distinct behavioural phenotypes may be identified

Structural Brain Signature of FTLD Driven by Granulin Mutation

Several causative gene mutations have been identified in frontotemporal lobar degeneration (FTLD), including mutations within Granulin (GRN) genes. It was recently shown that FTLD patients carriers of GRN Thr272fs mutation [FTLD-GRN(m+)] exhibit more severe abnormalities, as assessed by magnetic resonance imaging (MRI), than those with sporadic FTLD [FTLD-GRN(m-)]. The aim of this study was to investigate the relationship between grey (GM) and white matter (WM) microstructural damage in FTLD patients, carriers, and non-carriers of the mutation. Twenty-three FTLD patients [6 GRN(m+) and 17 GRN(m-)] and 12 healthy subjects received an MRI scan including volumetric and diffusion imaging. GM was assessed using voxel-based morphometry, while the corpus callosum was reconstructed using diffusion tractography. Mean diffusivity and fractional anisotropy of the corpus callosum were compared between groups. FTLD patients showed widespread GM atrophy and altered diffusion indices in the corpus callosum when compared to healthy subjects. When contrasting GRN(m+) against GRN(m-) patients, the former group had more atrophy in the left frontal GM, and reduced fractional anisotropy and increased mean diffusivity in the left anterior part of the corpus callosum. Significant correlations between the GM and WM damage were found in GRN(m+) patients. This pattern of damage was able to predict some of the additional neuropsychological deficits observed in GRN(m+) as compared to GRN(m-) patients. A more prominent involvement of WM in GRN(m+) patients is consistent with the knowledge that GRN genes are expressed in the microglia. This involvement might be responsible for the accrual of additional GM atrophy via disconnection mechanisms

Intensive rehabilitation increases BDNF serum levels in parkinsonian patients: A randomized study

Background. Exercise may decrease the risk of Parkinson’s disease (PD) in humans and reduce PD symptoms in animal models. The beneficial effects have been linked to increased levels of neurotrophic factors. Objective. We examined whether intensive rehabilitation treatment reduces motor disability in patients in the early stages of PD and increases brain-derived neurotrophic factor (BDNF) serum levels. Methods. Thirty participants in the early stages of PD treated with rasagiline were randomly assigned to 3 hours of rehabilitation treatment that included aerobic exercise for 28 days (Group 1) or to not therapy (control; Group 2). BDNF serum levels were assessed at time T0 (baseline, before treatment), T1 (10 days), T2 (20 days), and T3 (28 days). At T0 and T3, we assessed the Unified Parkinson’s Disease Rating Scale (UPDRS) III in both groups, as well as the UPDRS II and total, Berg Balance Scale, and 6-minute walking test only in Group 1. Results. BDNF levels significantly increased at T1 in Group 1, an increase that was maintained throughout the treatment period. At T3 compared to T0, UPDRS III scores significantly improved in Group 1 along with scores for UPDRS II, total, Berg Balance Scale, and 6-minute walking test. Conclusions. Intensive rehabilitation treatment increases the BDNF levels and improves PD signs in patients in the early stages of the disease. These results are in line with studies on animal models of PD and healthy subjects. </jats:p

Heterozygous TREM2 mutations in frontotemporal dementia

A causative association was recently demonstrated between homozygous TREM2 mutations and frontotemporal dementia (FTD)-like syndrome and between heterozygous TREM2 exon2 genetic variations and late-onset Alzheimer's disease (AD). The objective of this study was to evaluate whether heterozygous TREM2 genetic variations might be associated to the risk of FTD. TREM2 exon 2 was sequenced in a group of 1030 subjects-namely, 352 patients fulfilling clinical criteria for FTD, 484 healthy control subjects (HCs), and 194 patients with AD. The mutation frequency and the associated clinical characteristics were analyzed. We identified 8 missense and nonsense mutations in TREM2 exon 2 in 24 subjects. These mutations were more frequent in patients with FTD than in HCs (4.0% vs. 1.0%, p= 0.005). In particular, TREM2 Q33X, R47H, T66M, and S116C mutations were found in FTD and were absent in HCs. These mutations were associated with either the semantic variant of primary progressive aphasia or the behavioral variant FTD phenotypes. The FTD and AD groups were not significantly different with regard to TREM2 genetic variation frequency (AD: 2.6%, p= 0.39). Heterozygous TREM2 mutations modulate the risk of FTD in addition to increasing susceptibility to AD. Additional studies are warranted to investigate the possible role of these mutations in the pathogenesis of neurodegenerative disorders