22 documents found, page 1 of 3

A KIF5A Motor Domain Pathogenic Variant Associated with Spastic Paraplegia Type...

Spastic paraplegia type 10 is an autosomal dominant disease caused by KIF5A gene pathogenic variants. It commonly presents as pure spastic paraplegia but occasionally appears associated with polyneuropathy, cognitive impairment, parkinsonism, cerebellar ataxia, retinitis pigmentosa or deafness. The gene KIF5A codifies the kinesin-1 heavy chain, a protein with three main parts (globular motor domain, alfa-helica...

Egas Moniz: Nobel Prize in Medicine and Physiology

Association of body mass index and Parkinson disease

Background and objectives: The role of body mass index (BMI) in Parkinson disease (PD) is unclear. Based on the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in PD (Courage-PD) consortium, we used 2-sample Mendelian randomization (MR) to replicate a previously reported inverse association of genetically predicted BMI with PD and investigated whether findings were robust in analyses ...

Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objectiv...

Dairy intake and Parkinson's disease: a Mendelian randomization study

Background: Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective: The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods: We genotyped a well-establ...

Molecular characterization of Portuguese patients with hereditary cerebellar at...

Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the ma...

Tremor and Parkinsonism in chromosomopathies : a systematic review

The landscape of genetic forms of Parkinson's diseases (PD) has grown exponentially in recent years. Today, around 10% of PD cases are estimated to be of genetic etiology. However, the link between parkinsonism or tremor and chromosome disorders, both numerical and structural, has been neglected. We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic dis...

miR-335 targets LRRK2 and mitigates inflammation in Parkinson’s disease

Parkinson's disease (PD) is mainly driven by dopaminergic neuronal degeneration in the substantia nigra pars compacta accompanied by chronic neuroinflammation. Despite being mainly sporadic, approximately 10% of all cases are defined as heritable forms of PD, with mutations in the leucine-rich repeat kinase (LRRK2) gene being the most frequent known cause of familial PD. MicroRNAs (miRNAs or miRs), including mi...

A distinct neuromelanin magnetic resonance imaging pattern in parkinsonian mult...

Background: Parkinsonian variant of multiple system atrophy is a neurodegenerative disorder frequently misdiagnosed as Parkinson's disease. No early imaging biomarkers currently differentiate these disorders. Methods: Simple visual imaging analysis of the substantia nigra and locus coeruleus in neuromelanin-sensitive magnetic resonance imaging and nigrosome 1 in susceptibility-weighted sequences was performed i...

Patients and health professional's perspective of functional mobility in Parkin...

Background: Functional mobility (FM) is the person's ability to move to accomplish daily living tasks and activities. FM limitations are common in Parkinson's disease, increase with disease progression, and can be highly disabling. Although several studies in Parkinson's disease (PD) field use this concept, only recently, a formal definition has been proposed. Objective: We aimed to explore patient's and health...