Familial Alzheimer's disease associated with heterozygous mutation.

Introduction: mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous mutations may rarely show parkinsonism or dementia. Here, we describe for the first time a large family with an apparently autosomal dominant late-onset Alzheimer's disease (AD) harbouring a novel heterozygous mutation.

Rethinking Tako-tsubo Cardiomyopathy: The Contribution of Myocardial Pathology and Molecular Imaging.

Background: Despite substantial research, the mechanisms behind stress Tako-tsubo cardiomyopathy (TTC) remain rather elusive.

Objective: The purpose of this paper was to provide a detailed review of the mainstream factors underlying the pathophysiology of TTC, highlighting the novel contributions of molecular pathology and in-vivo molecular imaging.

Methods: A careful literature review selected all papers discussing TTC, specifically those providing novel insights from myocardial pathology and cardiac molecular imaging.

Telerehabilitation during social distancing for people with Parkinson's disease: a retrospective study.

Introduction/aim: Clinical worsening has been common in people with Parkinson's disease (PD) during the social distancing due to pandemic. It is unclear if telerehabilitation applied during social distancing preserves clinical aspects of people with PD who are frequent exercisers before the pandemic. Thus, we compared the effects of 10 months of supervised, home-based, real-time videoconferencing telerehabilitation (SRTT) and nonexercising control on clinical aspects in people with PD who are frequent exercisers before the pandemic.

Perception of COVID-19 Pandemic by Brazilian People With Parkinson's Disease and Multiple Sclerosis.

COVID-19 in Brazil is threatening, and it has forced the government to adopt partial lockdown as a strategy to stop the spread of the virus in the first wave of pandemic (March 2020). These preventive measures during the COVID-19 pandemic may affect the motor and non-motor symptoms in people with Parkinson's disease (PD) and Multiple sclerosis (MS). Thus, the purpose of this study was to investigate the perception during the first wave of COVID-19 pandemic lockdown on motor and non-motor symptoms, and also measure physical activity level, quality of life, and sleep quality in Brazilian people with PD and MS.

Peptide receptor radionuclide therapy in patients with metastatic progressive pheochromocytoma and paraganglioma: long-term toxicity, efficacy and prognostic biomarker data of phase II clinical trials.

Background: Pheochromocytoma and paraganglioma (PPGL) have currently only limited treatment options available for patients in the metastatic phase (mPPGL) in either post-surgery or inoperable settings. However, these rare tumors overexpress somatostatin receptors and can thus be treated with peptide receptor radionuclide therapy (PRRT). We present data about our 10-year experience treating 46 consecutive mPPGL patients with 90Y-DOTATOC or 177Lu-DOTATATE.