PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.

Neurodevelopmental disorders with early-onset parkinsonism have diverse genetic aetiologies and can mimic Parkinson's disease. We report the clinical evaluation and neuroimaging studies of a woman with intellectual disability and levodopa-responsive akinetic rigid parkinsonism. Whole-genome sequencing of family trio identified a de novo missense variant in PPP2R5D in the proband.

Dyspnea in Parkinson's disease: an approach to diagnosis and management.

Introduction: Dyspnea is a complex and debilitating non-motor symptom experienced by a significant proportion of PD patients which results in limitations to physical ability and a reduction in quality of life.

Areas Covered: The authors highlight the underlying pathophysiological mechanisms that can contribute to dyspnea in PD patients, and provide the clinician with a practical working algorithm for the management of such patients. The authors further highlight important clinical red flags that should be heeded in dyspneic PD patients and discuss therapeutic strategies for managing dyspnea.

Pregnancy outcomes amongst multiple sclerosis females with third trimester natalizumab use.

Background: Natalizumab, a monoclonal antibody directed against alpha-4-integrin, is an efficacious treatment used in Multiple Sclerosis (MS). Use in early pregnancy is safe but information in the third trimester is limited. Ceasing natalizumab is often associated with an increased risk in MS relapse and in some instances natalizumab continuation during pregnancy may be required.

Brainstem ventilatory dysfunction: A plausible mechanism for dyspnea in Parkinson's Disease?

Dyspnea is an under-recognized and debilitating symptom that is reported in up to 40% of patients with Parkinson's disease and may have multiple origins. Despite its frequency, it is poorly researched, and there is a general lack of understanding of the pathophysiology of dyspnea and respiratory dysfunction in PD. Consequently, a number of PD patients are labelled as having "unexplained dyspnea.

Dimethyl fumarate-associated transient bone marrow oedema syndrome.

Background: Dimethyl fumarate (DMF) is a commonly used and effective treatment for relapsing and remitting multiple sclerosis. Its use results in impairment of the transcription factor nuclear factor erythroid-derived 2 (E2)-related factor (Nrf2), which is involved in both immunomodulation and bone health. DMF has not previously been reported to cause bone marrow complications, though other fumarates including tenofovir have.

A World Health Organization primer.

Unlabelled: The World Health Organization (WHO) can be considered the primary agency of the United Nations that promotes global public health. This article provides a general overview of WHO by exploring the history, current, and future practices of the organization, and by addressing its major roles and functions in the present day.

Background: Srimathy Vijayan is a fourth-year medical student at the University of East Anglia, Norwich, United Kingdom.