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Introduction: 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.Methods: The study population consisted of patients in the Cambridgeshire Incidence of Parkinson's disease from General Practice to Neurologist and Parkinsonism: Incidence, Cognition and Non-motor heterogeneity in Cambridgeshire cohorts. Patients were grouped into non-carriers, carriers of 'non-pathogenic' GBA1 variants and carriers of pathogenic GBA1 mutations. Survival analyses for time to development of dementia, postural instability and death were carried out. Cox regression analysis controlling for potential confounders were used to determine the impact of GBA1 variants on these outcome measures.Results: GBA1 variants were identified in 14.4% of patients. Pathogenic and 'non-pathogenic' GBA1 variants were associated with the accelerated development of dementia and a more aggressive motor course. Pathogenic GBA1 variants were associated with earlier mortality in comparison with non-carriers, independent of the development of dementia.Discussion: GBA1 variants, including those not associated with Gaucher disease, are common in PD and result in a more aggressive disease course. [ABSTRACT FROM AUTHOR]

Neuroendocrine abnormalities are common in Parkinson's disease (PD) and include disruption of melatonin secretion, disturbances of glucose, insulin resistance and bone metabolism, and body weight changes. They have been associated with multiple non-motor symptoms in PD and have important clinical consequences, including therapeutics. Some of the underlying mechanisms have been implicated in the pathogenesis of PD and represent promising targets for the development of disease biomarkers and neuroprotective therapies. In this systems-based review, we describe clinically relevant neuroendocrine abnormalities in Parkinson's disease to highlight their role in overall phenotype. We discuss pathophysiological mechanisms, clinical implications, and pharmacological and non-pharmacological interventions based on the current evidence. We also review recent advances in the field, focusing on the potential targets for development of neuroprotective drugs in Parkinson's disease and suggest future areas for research. [ABSTRACT FROM AUTHOR]

A 71-year-old woman presented acutely with seizures; her MRI suggested a low-grade glioma of the right temporal lobe. Over the preceding 18 months, she had developed progressive limb chorea and orofacial dyskinesia. Examination showed a predominantly amnestic cognitive profile. Initial investigations were normal, but later she was found to have antibodies to collapsin response mediator protein 5 (also called CV2). Her symptoms and neuroimaging abnormalities gradually improved without treatment. Four months later, surveillance imaging with 18F-fluorodeoxyglucose-positron-emission tomography revealed a lesion confirmed by biopsy as a TX, N2, M0 small-cell lung cancer. This case is unusual for the strikingly unilateral neuroimaging abnormalities, which led to an initial misdiagnosis, and the spontaneous symptomatic improvement without treatment. In retrospect, the co-occurrence of paraneoplastic chorea, limbic encephalitis and neuropathy in the presence of an occult lung tumour make this almost a 'full house' of symptoms associated with antibodies to collapsin response mediator protein 5. It underlines the importance in clinical reasoning of avoiding the cognitive errors of premature closure and anchoring. [ABSTRACT FROM AUTHOR]

The article details the procedure of brainstem testing and brainstem death confirmation in Great Britain. Topics discussed include the medical definition of brainstem death under British rules, the importance of determining the cause of the condition before conducting tests and the potential reversible causes of brainstem death, including Baclofen overdose, organophosphate toxicity and high cervical spine injury. Also discussed are cases that require specialist neurology input.

Objective Differentiating idiopathic Parkinson's disease from atypical parkinsonian syndromes is challenging, especially in the early stages. We assessed whether the Revised Addenbrooke's Cognitive Examination (ACE-R) could differentiate between parkinsonian syndromes and reflect longitudinal changes in cognition in these disorders. Methods The ACE-R was administered at baseline and after approximately 18 months to 135 patients with parkinsonian disorders: 86 with idiopathic Parkinson's disease (PD), 30 with progressive supranuclear palsy (PSP), 19 with corticobasal degeneration (CBD). We assessed differences between groups for ACE-R, ACE-R subscores and Mini Mental State Examination (MMSE) scores at baseline (analyses of variance, receiver operating characteristics curves), and the interaction between diagnosis and change in ACE-R scores between visits (analyses of variance). Results The ACE-R verbal fluency subscore distinguished between PSP and PD with a high sensitivity (0.92) and specificity (0.87); total ACE-R score and the visuospatial subscore were less specific (0.87 and 0.84 respectively) and sensitive (0.70 and 0.73). Significant group level differences were found between PD and PSP for MMSE and ACE-R (total score and subscores for attention and concentration, fluency, language, and visuospatial function), and between PD and CBD for the ACE-R visuospatial subscore. Performance worsened between visits for ACE-R score in PD ( p=0.001) and CBD (p=0.001); visuospatial subscore in PD ( p=0.003), PSP (p=0.022) and CBD (p=0.0002); and MMSE in CBD (p=0.004). Conclusions We propose the ACE-R, particularly the verbal fluency subscore, as a valuable contributor to the differential diagnosis of parkinsonian syndromes in the correct clinical context. The ACE-R may reflect disease progression in PD and CBD. [ABSTRACT FROM AUTHOR]

The article presents a case study concerning headaches and strokes. It cites a case of 51-year-old man who has been admitted to an emergency department with a 10 week history of gradually worsening fluctuating confusion and headaches. It mentions that the initial assessment has not found focal neurological deficit. It notes that his past medical history including hypertension, type II diabetes mellitus and nephrectomy.

The article discusses the case of a male patient with Parkinson's disease. The patient presented with a history of tremor, with no rigidity or gait disturbance observed. The patient has been taking prochlorperazine for his labyrinthine symptoms. Single photon emission computed tomography and magnetic resonance imaging are the imaging modalities that can be used to diagnose Parkinson's disease. After stopping prochlorperazine for three months, the patient observed no improvement in symptoms. A dopamine transporter (DAT) imaging by another neurologist showed reduced uptake bilaterally. The patient was diagnosed with idiopathic Parkinson's disease and was prescribed with ropinirole.

We report a case of Toscana virus encephalitis. This emerging pathogen is among the three most common causes of meningoencephalitis in Europe during the warm season, yet remains under-recognised. Doctors should consider Toscana virus infection in patients presenting with neurological symptoms who have a relevant exposure history during the summer months. [ABSTRACT FROM AUTHOR]

The article focuses on the case of a 29-year-old woman who had gone into labour with her third child at 34 weeks gestation. It explores the possible diagnoses after the woman developed a thumping headache as well as twitching of her left hand. It views on the therapy to be considered to the case. It also indicates the need for further investigations regarding the condition of the patient.

The article presents an overview of the subject of older people who have been diagnosed with dementia and their ability to drive. A discussion of statistics related to car accidents and older people with dementia is presented. Legislation in the European Union that addresses drivers with dementia is discussed. Clinical, cognitive, behavioral and daily living tests that can be performed on older patients to determine the progress of their dementia are examined.

A letter to the editor is presented in response to the article "Excessive daytime sleepiness in parkinsonism" by I. Arnulf published in a 2005 issue of the journal "Sleep Medicine Reviews."

The authors focus on the possible teratogenicity of antiepileptic drugs for pregnant women. They find that the potential for such drugs to cause major congenital malformations or developmental delays in children is difficult to measure. Doctors should consider whether a patient needs antiepileptic drugs during pregnancy, which drugs are safer or whether monotherapy is indicated.

Introduction: 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., Methods: The study population consisted of patients in the Cambridgeshire Incidence of Parkinson's disease from General Practice to Neurologist and Parkinsonism: Incidence, Cognition and Non-motor heterogeneity in Cambridgeshire cohorts. Patients were grouped into non-carriers, carriers of 'non-pathogenic' GBA1 variants and carriers of pathogenic GBA1 mutations. Survival analyses for time to development of dementia, postural instability and death were carried out. Cox regression analysis controlling for potential confounders were used to determine the impact of GBA1 variants on these outcome measures., Results: GBA1 variants were identified in 14.4% of patients. Pathogenic and 'non-pathogenic' GBA1 variants were associated with the accelerated development of dementia and a more aggressive motor course. Pathogenic GBA1 variants were associated with earlier mortality in comparison with non-carriers, independent of the development of dementia., Discussion: GBA1 variants, including those not associated with Gaucher disease, are common in PD and result in a more aggressive disease course., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.)