Background: Monogenic Alzheimer's disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 () gene mutations. We present two new cases with presumed PSEN2-AD with unusual clinical and neuroimaging findings in order to provide more information on the pathophysiology and semiology of these patients.
View Article and Find Full Text PDFIntroduction: Parkinson's disease (PD) and schizophrenia can coexist. Antipsychotics block striatal D2 receptors, which inevitably aggravates the manifestations of PD.
Case Report: We report the case of a male patient with idiopathic Parkinson's disease and schizophrenia, with poor tolerance to minimal doses of levodopa, who underwent a dramatic improvement after bilateral subthalamic deep brain stimulation (DBS-STN).
Aim: To assess whether periodontitis is associated with cognitive decline and its progression as well as with certain blood-based markers of Alzheimer's disease.
Materials And Methods: Data from a 2-year follow-up prospective cohort study (n = 101) was analysed. Participants with a previous history of hypertension and aged ≥60 years were included in the analysis.
Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase.
Methods: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and 1 with I1371V).
Introduction: Parkinson's disease (PD) patients usually start treatment with apomorphine infusion (APO) in later stages of advanced PD (aPD). This timing limits the evaluation of its motor efficacy and other potential clinical benefits throughout the full course of aPD.
Methods: We prospectively analyzed the effect of APO on motor and non-motor symptoms, cognitive function and quality of life (QoL) in 22 PD patients with early stage aPD, defined as: age < 71 years and diagnosis of aPD for < 3 years.
Background: Studies comparing the clinical efficacy of apomorphine infusion (APO) with subsequent subthalamic deep brain stimulation (STN-DBS) in advanced Parkinson's disease (aPD) are currently lacking. Retrospective data have shown that patients treated with APO are usually older, have a more prolonged disease, and a more severe phenotype.
Objective: To compare the benefit of APO with that of STN-DBS on motor, non-motor, cognitive, and quality of life in the same patient when given sequentially.
Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase.
Methods: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V).
Introduction: Hemineglect produces a lower capacity for recovery after the stroke and so far there are no rehabilitation techniques that have proven to be effective at functional level.
Aims: The main objective of this work was to assess whether the modified constraint-induced movement therapy (mCIMT)for hemineglect produces greater benefits than conventional therapy on functional hemineglect. Secondary objectives were to assess whether mCIMT produces greater benefits on upper and lower limb function as well as on the degree of autonomy and disability of patients with in relation to conventional therapy.
Objective: Although cognitive impairment (CI) is common in multiple sclerosis (MS), it is difficult to suspect in patients with low disability and there is a lack of brief and effective CI screening tools with a define cut-off point to be used during routine clinic visits. This study aims to validate the Electronic Screening Cognitive Impairment in Multiple Sclerosis (SCI-MS) test for CI among MS patients.
Methods: Cross-sectional, observational study that included adult patients, diagnosed with MS, Expanded Disability Status Scale (EDSS) score ≤6.
Background: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS.
View Article and Find Full Text PDFIntroduction: Donepezil is a procholinergic drug that slows down cognitive and functional impairment in patients with Alzheimer's disease. Little research has been carried out to study its effect in other types of neurobehavioural disorders.
Aims: The purpose of this study was to describe the response to donepezil therapy in patients with neurobehavioural disorders due to vascular and post-traumatic causes.