Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.

In Portugal, heterozygous loss-of-function mutations in the progranulin () gene account for approximately half of the genetic mediated forms of frontotemporal dementia (FTD). mutations reported thus far cause FTD through a haploinsufficiency disease mechanism. Herein, we aim to unveil the mutation spectrum, investigated in 257 FTD patients and 19 family members from the central/north region of Portugal using sequencing methods.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures and/or repetitive movements. In this report, we identified a novel heterozygous splice-site variant in VPS16 (NM_022575.4:c.

Blood Biomarkers for the Diagnosis of Neurodegenerative Dementia: A Systematic Review.

Importance: Accurately diagnosing neurodegenerative dementia is often challenging due to overlapping clinical features. Disease specific biomarkers could enhance diagnostic accuracy. However, CSF analysis procedures and advanced imaging modalities are either invasive or high-priced, and routinely unavailable.

Community Exercise: A New Tool for Personalized Parkinson's Care or Just an Addition to Formal Care?

Physiotherapy and exercise are associated with motor and non-motor benefits in Parkinson's disease (PD). Community exercise programs may increase ongoing exercise participation and help people with Parkinson's disease actively participate in their health management. But there is still limited knowledge about these programs regarding their benefits, safety, implications over the long-term, and effective implementation.

Transthyretin amyloid-related transitory events (TARTEs): Descriptive analysis of clinical, imagiological, and neurophysiological features.

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a multisystemic disorder inherited as an autosomal dominant trait. Transitory events in ATTR-FAP patients are a feature of this disorder and remain poorly depicted in the literature. We aimed to describe a case series of ATTR-FAP patients who presented to our department with transitory events and document the clinical, neuroimaging and neurophysiological characteristics of the events.

Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in -Related Dystonia.

Background: Mutations in the anoctamin 3 () gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid-life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24.

From Kidney to Brain: An Uncommon Severe Relapse of Myeloperoxidase Anti-Neutrophil Cytoplasmic Antibody (MPO-ANCA) Vasculitis.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of rare autoimmune diseases that affect medium and small blood vessels, with uncommon, variable central nervous system (CNS) involvement. It poses diagnosis challenges due to the limited accuracy of conventional imaging and vast differential diagnosis. We describe the case of a 76-year-old man with a previously diagnosed myeloperoxidase (MPO)-positive AAV with exclusive renal involvement.

[Portuguese Consensus on the Diagnosis and Management of Lewy Body Dementia (PORTUCALE)].

Lewy body dementia is a common cause of dementia leading to the progressive deterioration of cognitive function and motor skills, behavioral changes, and loss of autonomy, impairing the quality of life of patients and their families. Even though it is the second leading cause of neurodegenerative dementia, diagnosis is still challenging, due to its heterogenous clinical presentation, especially in the early stages of the disease. Accordingly, Lewy body dementia is often misdiagnosed and clinically mismanaged.

Imaging Evidence of Nigrostriatal Degeneration in DYT-PRKRA.

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312941-sup-v001.

[Parkinson's Disease: Clinical Review and Update].

Parkinson's disease is the second most common neurodegenerative disorder, and a significant increase in its prevalence in the past three decades has been documented. Environmental and genetic factors contribute to the pathophysiology of this disease, and 5% - 10% of cases have a monogenic cause. The diagnosis relies on clinical findings, supported by adequate testing.

Intraoperative microelectrode recording in Parkinson's disease subthalamic deep brain stimulation: Analysis of clinical utility.

This retrospective study aims to explore the clinical utility of microelectrode recording (MER) during subthalamic deep brain stimulation (DBS) surgery in patients with Parkinson's disease (PD). We analyzed the data from 103 PD patients, who consecutively received bilateral subthalamic nucleus (STN) DBS at an experienced academic medical center. We collected demographic, clinical, and DBS related data, including intraoperative microelectrode recording data, electrode positioning, and clinical effects provided by intraoperative microstimulation.

Contemporary Options for the Management of Motor Complications in Parkinson's Disease: Updated Clinical Review.

Parkinson's disease (PD) is a chronic, progressive condition affecting around 1% of the population older than 60 years. Upon long-term treatment with levodopa, the mainstay of treatment in PD, most patients, especially younger ones exposed to higher doses, will experience symptoms related to end-of-dose deterioration, peak-dose dyskinesias, and other motor fluctuations. Therapeutic strategies are grounded on modification of oral levodopa pharmacokinetics to extend levodopa benefit and development of new routes of drug delivery (e.

[Tremor: A Clinical Guide For The Non-Neurologist].

Tremor is the commonest involuntary movement. The differential diagnosis is wide, and can be challenging even for experienced neurologists. Nonetheless, many tremors have a benign etiology and clinical course and, in many cases, non-neurologists are able to clinically manage these situations.

Hospital admissions 2000-2014: A retrospective analysis of 288 096 events in patients with dementia.

Introduction: Dementia is a leading cause of disability worldwide. It is associated with an increased risk of hospitalization, imposing a significant burden on healthcare systems. The evidence on the long-term evolution of this issue and broadly on healthcare systems is currently limited.