Journal of neurology, neurosurgery, and psychiatry
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2020
Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson's disease.
Variants in the GBA1 gene have been identified as a common risk factor for Parkinson's disease (PD). In addition to pathogenic mutations (those associated with Gaucher disease), a number of 'non-pathogenic' variants also occur at increased frequency in PD. Previous studies have reported that pathogenic variants adversely affect the clinical course of PD. The role of 'non-pathogenic' GBA1 variants on PD course is less clear. In this study, we report the effect of GBA1 variants in incident PD patients with long-term follow-up. ⋯ GBA1 variants, including those not associated with Gaucher disease, are common in PD and result in a more aggressive disease course.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2020
Complete Epstein-Barr virus seropositivity in a large cohort of patients with early multiple sclerosis.
To determine the prevalence of antibodies to Epstein-Barr virus (EBV) in a large cohort of patients with early multiple sclerosis (MS). ⋯ The complete EBV seropositivity in this large cohort of patients with early MS strengthens the evidence for a role of EBV in MS. It also suggests that a negative EBV serology in patients with suspected inflammatory central nervous system disease should alert clinicians to consider diagnoses other than MS.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2020
Serum neuronal exosomes predict and differentiate Parkinson's disease from atypical parkinsonism.
Parkinson's disease is characterised neuropathologically by α-synuclein aggregation. Currently, there is no blood test to predict the underlying pathology or distinguish Parkinson's from atypical parkinsonian syndromes. We assessed the clinical utility of serum neuronal exosomes as biomarkers across the spectrum of Parkinson's disease, multiple system atrophy and other proteinopathies. ⋯ Increased α-synuclein egress in serum neuronal exosomes precedes the diagnosis of Parkinson's disease, persists with disease progression and in combination with clusterin predicts and differentiates Parkinson's disease from atypical parkinsonism.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2020
Determinants of cerebral radiological progression in Fabry disease.
It is unclear which patients with Fabry disease (FD) are at risk for progression of white matter lesions (WMLs) and brain infarctions and whether enzyme replacement therapy (ERT) changes this risk. The aim of this study was to determine the effect of ERT and clinical characteristics on progression of WMLs and infarctions on MRI in patients with FD. ⋯ Progression of WMLs and cerebral infarctions in FD is mainly related to age, sex and phenotype. Additional effects of established cardiovascular risk factors, organ involvement and treatment with ERT are probably small to negligible.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2020
Letter Multicenter Study Observational StudySymptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme.