Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2017
ReviewTracking and predicting disease progression in progressive supranuclear palsy: CSF and blood biomarkers.
Progressive supranuclear palsy (PSP) is a rare and progressive neurodegenerative condition characterised pathologically by neuronal cell loss due to abnormal tau deposits. Clinically, the condition manifests as parkinsonism with the addition of progressive balance, speech, swallowing, eye movement and cognitive impairment, ultimately leading to death. Measuring change over time in neurodegenerative conditions is central to defining the effects of therapeutic intervention and disease biology. ⋯ Here we discuss the benefits of using biomarkers to predict and track disease progression in both clinical and research settings. Through reviewing the literature to date on the role of cerebrospinal fluid (CSF) and blood biomarkers, we highlight data that reveals the ability of CSF and plasma neurofilament light chain (NF-L) to predict and track clinical disease progression in PSP. We also discuss the need for large-scale longitudinal studies to identify novel biomarkers.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2017
ReviewPeripheral neuropathy in complex inherited diseases: an approach to diagnosis.
Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. ⋯ Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy, for example, cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain-Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2017
Plasma α-synuclein predicts cognitive decline in Parkinson's disease.
α-Synuclein is critical to the pathogenesis of Parkinson's disease (PD). Few studies examined the plasma levels of α-synuclein due to the exceptionally low level of α-synuclein in plasma compared with cerebrospinal fluid. We aimed to investigate plasma α-synuclein in patients with PD of different disease severity. ⋯ Our data suggest that plasma α-synuclein level correlates with cognitive decline but not motor severity in patients with PD. Plasma α-synuclein could serve as a surrogate biomarker for patients at risk of cognitive decline.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2017
Observational StudyLaughter, crying and sadness in ALS.
Pseudobulbar affect (PBA) is prevalent in amyotrophic lateral sclerosis (ALS), but there is limited information on its associations and course. ⋯ This study identifies associations of PBA and additionally finds PBA (especially crying-predominant PBA) more prevalent in women with ALS. Although the two self-report instruments (CNS-LS and PHQ-9) discriminate well between PBA and depression, there is significant overlap between depression and crying in PBA. Studies of PBA should stratify for gender, examine crying and laughter as separate outcomes and adjust for depression.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2017
Clinical, physiological and pathological characterisation of the sensory predominant peripheral neuropathy in copper deficiency.
Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. ⋯ An axonal, length-dependent sensory predominant peripheral neuropathy causing sensory ataxia is characteristic of copper deficiency usually co-occurring with myelopathy. Neurophysiological testing confirms involvement of large, greater than small fibres. The pathological findings suggest axonal degeneration and repair. Inflammatory infiltrates are common but are small and of doubtful pathological significance.