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Qualitative systematic review on the lived experience of functional neurological disorder.
BMJ Neurol Open
January 2025
The Brain and Mind Centre, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
Objectives: Functional neurological disorder (FND) is a complex disorder, recently attracting much research into aetiology and treatment. However, there is limited research on the patient's lived experience. This paper addresses this gap to ask: 'What is the subjective life experience of adult patients living with FND?'
Methods: From 1980 to 2020, Medline, PsycInfo, Scopus, Science Direct, PubMed, CINAHL and Embase were searched for English language qualitative adult research.
What does it mean when the pleasant smells come and go? Correlation between UPSIT odor identification status and fluctuation of non-motor symptoms in Parkinson's disease.
Acta Neurol Belg
January 2025
The Department of Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.
Parkinson's disease (PD) is characterized by motor and non-motor symptoms, including olfactory dysfunction. Prior studies have shown that olfaction deteriorates with disease progression, however fluctuations in olfaction and related PD symptoms have been less explored. This study aimed to investigate correlations between changes in odor identification ability and PD symptoms.
View Article and Find Full Text PDFAmbiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.
JCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFFunctional neurological disorder in multiple sclerosis: A prospective study.
Mult Scler Relat Disord
January 2025
Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy. Electronic address:
Background: There is increasing recognition Functional Neurological disorder (FND) is comorbid with other neurological conditions, but little is known about patients with Multiple Sclerosis (MS). We therefore systematically evaluated the presence of FND in consecutive patients with MS and its clinical correlates.
Methods: Three-hundred and ten consecutive MS patients, seen at our center on either elective or emergent basis, underwent a structured protocol to gather demographics and data about clinical features, previous and current treatments and presence of mood disorders and were additionally assessed by an expert in FND.
Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin-Sensitive Magnetic Resonance Imaging and F-Fluorodopa-Positron Emission Tomography.
Mov Disord
January 2025
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Background: Central synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), involve alpha-synuclein accumulation and dopaminergic cell loss in the substantia nigra (SN) and locus coeruleus (LC). Pure autonomic failure (PAF), a peripheral synucleinopathy, often precedes central synucleinopathies.
Objectives: To assess early brain involvement in PAF using neuromelanin-sensitive magnetic resonance imaging (NM-MRI) and fluorodopa-positron emission tomography (FDOPA-PET), and to determine whether PAF patients with a high likelihood ratio (LR) for conversion to a central synucleinopathy exhibit reduced NM-MRI contrast in the LC and SN compared with controls and low-LR patients.
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