European Journal of Neurology

BACKGROUND: The presence of apolipoprotein E ε4 (APOE ε4) is associated with an increased risk of developing Alzheimer's disease (AD). The aim of this study is to assess the effects of APOE ε4 on Aβ pathology, glucose metabolism, and grey matter (GM) volume and their longitudinal changes in healthy control (HC) and amnestic mild cognitive impairment (aMCI). METHODS: We included 50 HCs and 109 aMCI patients from the Alzheimer's disease neuroimaging initiative (ADNI) phase 2/GO based on availability of baseline T1-weighted magnetic resonance imaging (MRI), 18 F-florbetapir (AV45) positron emission tomography (PET), and 18 F-flurodeoxyglucose (FDG) PET...

BACKGROUND: The association between nonstenotic plaque at the petrous internal carotid artery (ICA) and embolic stroke of undetermined source (ESUS) remains unknown. We hypothesized that larger petrous plaque is more prevalent in the ipsilateral vs contralateral side among ESUS patients without intracranial and proximal ICA plaque. METHODS: From 243 ESUS and 160 small-vessel disease (SVD) patients without proximal ICA plaque, 88 ESUS and 103 SVD patients without ipsilateral nonstenotic intracranial and proximal ICA plaque were enrolled in the present study...

BACKGROUND: Evidence has accumulated to support the early involvement of altered gastrointestinal (GI) function in neurodegenerative disease. However, risk of Alzheimer's disease (AD) and Parkinson's disease (PD) among individuals with a GI biopsy of normal mucosa or non-specific inflammation is unknown. METHODS: This matched cohort study included all individuals in Sweden with a GI biopsy of normal mucosa (n=480,346) or non-specific inflammation (n=655,937) during 1965-2016 (exposed group) as well as their individually matched population references and unexposed full siblings...

No abstract text is available yet for this article.

OBJECTIVE: This study aimed at estimating the prevalence of language impairment (LI) in a large, clinic-based cohort of non-demented ALS patients and assessing its underpinnings at motor and non-motor levels. METHODS: N=348 non-demented ALS patients underwent the Edinburgh Cognitive and Behavioural ALS Screen (ECAS), as well as an assessment of behavioural/psychiatric and motor-functional features. The prevalence of LI was estimated based on the proportion of patients showing a performance below the age- and education-adjusted cut-off on the ECAS-Language...

BACKGROUND: The monoamine oxidase type B inhibitors plus channel blockers (MAO-BIs plus) are a new class of anti-parkinsonian drug with additional mechanisms of action for their property as ion channel blockers. The present study aimed to compare the efficacy and safety of MAO-BIs plus and conventional MAO-BIs, as well as their corresponding doses, as adjuvant therapy to levodopa in the treatment of Parkinson's disease (PD). METHODS: Randomized controlled trials (RCTs) enrolling PD patients treated with selegiline, rasagiline, safinamide, or zonisamide as adjuvant therapy to levodopa were identified...

BACKGROUND: Ehlers-Danlos syndromes are hereditary disorders of connective tissue that are characterized by joint hypermobility, skin hyperextensibility and tissue fragility. The most common subtype is the hypermobile type. In addition to symptoms of small fibre neuropathy (SFN) due to damage to the small peripheral nerve fibres with degeneration of the distal nerve endings, autonomic disorders such as postural tachycardia syndrome are frequently reported features in patients with hypermobile Ehlers-Danlos syndromes (hEDS)...

BACKGROUND: Essential tremor (ET) is a common and heterogeneous disorder characterized by postural/kinetic tremor of the upper limbs and other body segments and by non-motor symptoms, including cognitive and psychiatric abnormalities. Only a limited number of longitudinal studies have comprehensively and simultaneously investigated motor and non-motor symptom progression in ET. Possible soft signs that configure the ET-plus diagnosis are also underinvestigated in follow-up studies. We aimed to longitudinally investigate the progression of ET manifestations by means of clinical and neurophysiological evaluation...

INTRODUCTION: Neuronal autoantibodies can support the diagnosis of primary autoimmune cerebellar ataxia (PACA). METHODS: Case presentation and literature review of PACA associated with anti-neurochondrin antibodies. RESULTS: A 33-year-old man noticed 05/20 reduced control of the right leg. First at our hospital 09/21, he complained about gait imbalance, fine motor disorders, tremor, intermittent diplopia and slurred speech. He presented a pancerebellar syndrome with stance, gait and limb ataxia, scanning speech and oculomotor dysfunction...

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects the motor system but also involves deficits in emotional processing such as facial emotion recognition. In healthy participants, it has been shown that facial mimicry, the automatic imitation of perceived facial expressions, facilitates the interpretation of the emotional states of our counterpart. In PD patients, recent studies revealed reduced facial mimicry and consequently reduced facial feedback, suggesting that this reduction might contribute to the prominent emotion recognition deficits found in PD...

BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disorder causing excessive copper deposition and a spectrum of manifestations, particularly neurological and hepatic symptoms. Over seven decades (<1959 to 2019), we analysed the clinical characteristics of patients with WD admitted to the country's only reference centre, which provided long-term care to most adult patients in Poland. METHODS: Electronic prospective data collection began in the 2000s and for prior years, medical records were analysed retrospectively...

BACKGROUND: The prevalence of Huntington's Disease (HD) has increased over time, however there is a lack of up-to-date evidence documenting the economic burden of HD by disease stage. This study provides an estimate of the annual direct medical, non-medical and indirect costs associated with HD from participants of the Huntington's Disease Burden of Illness Study (HDBOI) in five European countries and the USA. METHODS: The HDBOI is a retrospective, cross-sectional study...

BACKGROUND: Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms in a cohort JHD patients, and to explore its relationship with CAG expansion and relative telomere length (RTL). METHODS: A total of 84 JHD patients and 54 neurologically healthy age and sex matched individuals were recruited...

BACKGROUND: This study evaluates for the first time the quantitative measurability of GFAP (glial fibrillary acidic protein), NfL (neurofilament light chain), UCH-L1 (ubiquitin carboxy-terminal hydrolase L1) and t-tau (total tau) in urine of patients with acute cerebral damage. METHODS: Serum and urine samples were prospectively collected from patients with an acute ischemic stroke or intracerebral hemorrhage (target group) and compared to healthy subjects (control group); samples were measured using ultrasensitive single molecule arrays (Simoa®)...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: Amyloid myopathy is a rare and severe manifestation of systemic light chain (AL) amyloidosis. Early diagnosis and staging are mandatory for optimal therapy, given the rapid progression of muscle weakness. Despite the efficacity of bortezomib-based treatment regimens, there is a lack of therapeutic alternatives in non-responsive patients. METHODS: We present the case report of a patient with systemic AL amyloidosis myopathy treated with daratumumab. RESULTS: A 70-year-old man displayed severe proximal muscle weakness which had developed over a 10-month period...

BACKGROUND: Meningitis and encephalitis are potentially life-threatening diseases that require fast and accurate diagnostics and therapy. The value of PCR multiplex testing in clinical practice is still a matter of debate. METHODS: We evaluated the value of a meningoencephalitis PCR array in the clinical routine of an emergency department. RESULTS: In n=1578 emergency patients who received a lumbar puncture, 43% received it for a clinically suspected CNS infection...

OBJECTIVE: Stroke and small vessel disease cause gait disturbances and falls. The naturally occurring loss-of-function mutation (LOFM) in the C-C Chemokine receptor 5 gene (CCR5-Δ32), has recently been reported as a protective factor in post-stroke motor and cognitive recovery. We sought to examine whether it also influences gait and balance measures up to two years after stroke. METHODS: Participants were 575 survivors of first-ever, mild-moderate ischemic stroke or transient ischemic attack from the TABASCO prospective study, who underwent a 3T MRI at baseline, and were examined by a multi-professional team 6, 12 and 24 months after the event, using neurological, neuropsychological, and mobility examinations...

BACKGROUND: Non-ergot dopamine agonists (NEDAs) have been used as an adjunct therapy to levodopa in advanced Parkinson's disease (PD) for many years. However, there is no strong evidence that a given NEDA is more potent than another. To compare and rank the efficacy, tolerability and safety of six commonly used NEDAs as an adjunct to levodopa in advanced PD, which includes long-acting and standard formulations, a network meta-analysis was performed. METHODS: The MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials databases, China National Knowledge Infrastructure (CNKI), and Wanfang database were searched from January 1996 to June 2022 for eligible randomized controlled trials (RCTs)...