Publications
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Clinical and therapeutic predictors of disease outcomes in AQP4-IgG + neuromyelitis optica spectrum disorder Ghent University
Background: Aquaporin-4-IgG positive (AQP4-IgG(+)) Neuromyelitis Optica Spectrum Disorder (NMOSD) is an uncommon central nervous system autoimmune disorder. Disease outcomes in AQP4-IgG + NMOSD are typically measured by relapse rate and disability. Using the MSBase, a multi-centre international registry, we aimed to examine the impact immunosuppressive therapies and patient characteristics as predictors of disease outcome measures in AQP4-IgG + ...
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders Vrije Universiteit Brussel
Abstract Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a
variable clinical expression that needs further exploration.
Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have
no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD).
Therefore, this study aimed to ...
variable clinical expression that needs further exploration.
Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have
no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD).
Therefore, this study aimed to ...
The co-occurrence of gender dysphoria and autism spectrum disorder in adults : an analysis of cross-sectional and clinical chart data Ghent University
Quantitative studies indicate an overrepresentation of ASD in individuals with GD. This study aims to determine the prevalence of autistic traits or ASD in adults with GD using two different data collection methods: (1) cross-sectional data using the social responsiveness scale-adults (SRS-A) and the autism quotient (AQ) (n = 63). (2) Clinical chart data (n = 532). Mean SRS-A scores were significantly higher compared to a norm population. Almost ...
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders Ghent University University of Antwerp
Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum Vrije Universiteit Brussel KU Leuven
Importance: One characteristic histopathological event in Alzheimer disease (AD) is cerebral amyloid aggregation, which can be detected by biomarkers in cerebrospinal fluid (CSF) and on positron emission tomography (PET) scans. Prevalence estimates of amyloid pathology are important for health care planning and clinical trial design.
Objective: To estimate the prevalence of amyloid abnormality in persons with normal cognition, ...
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings Vrije Universiteit Brussel
To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. To quantify ataxia symptoms, we used the Scale for the Assessment and Rating of Ataxia (SARA). The presence of cerebellar oculomotor signs was assessed ...