36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry
ConclusionsOur data suggests that long-term interruption of ERT in LOPD may lead to deterioration of clinical meaningful parameters and quality of life. In addition, a clinical restoration after ERT cessation is possible for most of the LOPD patients within a 36 months follow-up. (Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2018 Category: Neurology Source Type: research

Migraine prophylactic management in neurology and primary care (2006 –2015)
(Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2018 Category: Neurology Source Type: research

Generalization after ocular onset in myasthenia gravis: a case series in Germany
ConclusionsThe conversion rate in ocular myasthenia was high in our series, predicted by the presence of a thymoma. Our findings suggest that corticosteroids can prevent secondary generalization in ocular myasthenia patients with thymic hyperplasia, which requires further research. (Source: Journal of Neurology)
Source: Journal of Neurology - September 17, 2018 Category: Neurology Source Type: research

Ethical challenges in tracheostomy-assisted ventilation in amyotrophic lateral sclerosis
AbstractThe special nature of amyotrophic lateral sclerosis (ALS) and tracheostomy with invasive ventilation (TIV) leads to challenges that can be difficult in two senses: not only to handle well, but also to discuss with patients and other involved stakeholders. Because of the delicate nature of interpersonal relations and communication in ALS, some of the downsides to TIV may almost take on a nature of taboo, making them difficult to raise for open discussion. Yet these ethical challenges are important to be aware of, not only for health professionals and managers but, arguably, also for patients and next of kin. They ar...
Source: Journal of Neurology - September 14, 2018 Category: Neurology Source Type: research

Ciclosporin and chorea: a new association?
(Source: Journal of Neurology)
Source: Journal of Neurology - September 14, 2018 Category: Neurology Source Type: research

Differential effects of propranolol on head and upper limb tremor in patients with essential tremor and dystonia
AbstractPropranolol is used as the first-line treatment in essential tremor and it has also been proposed as a treatment for tremor in dystonia. However, several issues remain uncertain. For example, it is still not clear whether propranolol exerts a beneficial effect on head tremor. Moreover, no studies have investigated whether the effect of propranolol on head and upper limb tremor in essential tremor differs from that in dystonia. We aimed to assess the effects of propranolol on tremor in different body parts in essential tremor and in patients with tremor and dystonia. Twenty-nine patients with head and upper limb tre...
Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research

Early ophthalmologic features of Parkinson ’s disease: a review of preceding clinical and diagnostic markers
AbstractNon-motor symptoms in Parkinson ’s disease are an important cause of morbidity and may even precede the onset of the motor features of the disease. Visual abnormalities are among the most frequent non-motor symptoms observed during the early stages of the disease. Some of the visual symptoms of Parkinson’s disease can likely b e explained by the presence of dopaminergic neurons within the retina, where the progressive loss of dopamine and the accumulation of α-synuclein within the retinal layers leads to visual dysfunction, while some are caused by abnormalities in cortical visual processing. Many...
Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research

Quality of life in a German cohort of Parkinson ’s patients assessed with three different measures
ConclusionsThe associations between clinical aspects of PD and QoL vary substantially among all three measures. Importantly, depression as a frequent comorbidity in PD is underestimated by the EQ-5D, but not by the PDQ-39 and the WHOQOL-100/WHOQOL-BREF. In turn, motor impairments are underestimated by the latter and associated strongest with QoL in the EQ-5D. (Source: Journal of Neurology)
Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research

Platelet-derived extracellular vesicles in Huntington ’s disease
AbstractThe production and release of extracellular vesicles (EV) is a property shared by all eukaryotic cells and a phenomenon frequently exacerbated in pathological conditions. The protein cargo of EV, their cell type signature and availability in bodily fluids make them particularly appealing as biomarkers. We recently demonstrated that platelets, among all types of blood cells, contain the highest concentrations of the mutant huntingtin protein (mHtt) —the genetic product of Huntington’s disease (HD), a neurodegenerative disorder which manifests in adulthood with a complex combination of motor, cognitive an...
Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research

Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
AbstractPurposeTo examine dorsal root ganglia and the proximal nerve segments in female patients with Fabry disease by functional and morphometric magnetic resonance neurography.MethodsIn this prospective multicenter study the lumbosacral dorsal root ganglia and proximal sciatic nerve were examined in ten female patients with Fabry disease by a standardized magnetic resonance neurography protocol at 3  T. Volumes of dorsal root ganglia L3–S2, permeability of dorsal root ganglia L5 and S1 and the spinal nerve L5 as well as the cross-sectional area of the proximal sciatic nerve were compared to 16 gender-matched h...
Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research

Efficacy and safety of mycophenolate mofetil in progressive multiple sclerosis patients
ConclusionMMF did not affect disease progression but did influence relapse rate. We believe that other medication options should be considered before MMF in advanced progressive patients. (Source: Journal of Neurology)
Source: Journal of Neurology - September 10, 2018 Category: Neurology Source Type: research

The effect of a single botulinum toxin treatment on somatosensory processing in idiopathic isolated cervical dystonia: an observational study
ConclusionThe peripheral and central treatment effects of BoNT have little to no effect on postural and cervical sensorimotor control in CD. Further research may explore whether sensory training or specialized exercise therapy improves somatosensory integration and everyday functioning in patients with CD. (Source: Journal of Neurology)
Source: Journal of Neurology - September 8, 2018 Category: Neurology Source Type: research

2017 revisions of McDonald criteria shorten the time to diagnosis of multiple sclerosis in clinically isolated syndromes
ConclusionsApplication of the 2017 revisions of McDonald criteria results in an earlier diagnosis of MS in a large percentage of CIS patients destined to convert to MS. (Source: Journal of Neurology)
Source: Journal of Neurology - September 8, 2018 Category: Neurology Source Type: research

Treatment course and outcomes after revascularization surgery for moyamoya disease in adults
ConclusionsThis analysis of nationally representative US data suggests that although readmission after RS for MMD is not uncommon, cerebral hemorrhagic events during the 90-day postoperative period are rare. (Source: Journal of Neurology)
Source: Journal of Neurology - September 8, 2018 Category: Neurology Source Type: research

Sensor-based gait analysis of individualized improvement during apomorphine titration in Parkinson ’s disease
AbstractMobile, sensor-based gait analysis in Parkinson ’s disease (PD) facilitates the objective measurement of gait parameters in cross-sectional studies. Besides becoming outcome measures for clinical studies, the application of gait parameters in personalized clinical decision support is limited. Therefore, the aim of this study was to evaluate whe ther the individual response of PD patients to dopaminergic treatment may be measured by sensor-based gait analysis. 13 PD patients received apomorphine every 15 min to incrementally increase the bioavailable apomorphine dose. Motor performance (UPDRS III) was ass...
Source: Journal of Neurology - September 8, 2018 Category: Neurology Source Type: research

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
AbstractObjectiveTo assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients.MethodsWe performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and edema.ResultsThe MRI fat fraction and ultrasound echogenicityz-score correlated strongly (CC 0.865,p 
Source: Journal of Neurology - September 6, 2018 Category: Neurology Source Type: research

DIZZYNET 2018: visions and perspectives of future vestibular research
(Source: Journal of Neurology)
Source: Journal of Neurology - September 6, 2018 Category: Neurology Source Type: research

Significance of CSF NfL and tau in ALS
AbstractCerebrospinal fluid (CSF) neurofilament light chain (NfL) has emerged as putative diagnostic biomarker in amyotrophic lateral sclerosis (ALS), but it remains a matter of debate, whether CSF total tau (ttau), tau phosphorylated at threonine 181 (ptau) and the ptau/ttau ratio could serve as diagnostic biomarker in ALS as well. Moreover, the relationship between CSF NfL and tau measures to further axonal and (neuro)degeneration markers still needs to be elucidated. Our analysis included 89 ALS patients [median (range) age 63 (33 –83) years, 61% male, disease duration 10 (0.2–190) months] and 33 age- and se...
Source: Journal of Neurology - September 5, 2018 Category: Neurology Source Type: research

Targeting phosphocreatine metabolism in relapsing –remitting multiple sclerosis: evaluation with brain MRI, 1 H and 31 P MRS, and clinical and cognitive testing
ConclusionBoth fluoxetine and prucalopride had a symptomatic effect on upper limb function, fatigue, and depression, but this should be interpreted with caution. No effect of treatment was found on31P and1H MRS parameters, suggesting that these molecules do not influence the PCr metabolism. (Source: Journal of Neurology)
Source: Journal of Neurology - September 5, 2018 Category: Neurology Source Type: research

Vascular vertigo: updates
AbstractDiscriminating strokes in patients with acute dizziness/vertigo is challenging especially when other symptoms and signs of central nervous involvements are not evident. Despite the developments in imaging technology over the decades, a significant proportion of acute strokes may escape detection on imaging especially during the acute phase or when the lesions are small. Thus, small strokes causing isolated dizziness/vertigo would have a higher chance of misdiagnosis in the emergency department. Even though several diagnostic algorithms have been advanced for acute vascular vertigo, we still await more comprehensive...
Source: Journal of Neurology - September 5, 2018 Category: Neurology Source Type: research

Affinities of human NMDA receptor autoantibodies: implications for disease mechanisms and clinical diagnostics
AbstractAnti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a common autoimmune encephalitis presenting with psychosis, dyskinesias, autonomic dysfunction and seizures. The underlying autoantibodies against the NR1 subunit are directly pathogenic by disrupting synaptic NMDAR currents. However, antibody titers correlate only partially with the clinical outcome, suggesting the relevance of other factors such as antibody affinity. We thus determined the binding curves of human monoclonal autoantibodies and patients ’ cerebrospinal fluid (CSF) against NR1-expressing HEK293 cells using flow cytometry. Antibody affi...
Source: Journal of Neurology - September 5, 2018 Category: Neurology Source Type: research

Comparative cognitive and neuropsychiatric profiles between Parkinson ’s disease, multiple system atrophy and progressive supranuclear palsy
ConclusionsThe present study underlined the pervasiveness of cognitive deficits, apathy and depressive symptoms in PSP, whereas little cognitive differences were found between PD and MSA. The findings indirectly supported a dysfunction of prefronto-subcortical circuitries (i.e., dorsolateral prefrontal and limbic circuits) in PSP and PD. Cognitive similarities between MSA and PD reinforced the pivotal role of altered basal ganglia and corresponding frontal deafferentation in the occurrence of the cognitive deficits. (Source: Journal of Neurology)
Source: Journal of Neurology - September 3, 2018 Category: Neurology Source Type: research

Effect of anti-seizure drugs on serum S100B in patients with focal seizure: a randomized controlled trial
AbstractPurposeS100B, a cytokine produced by astrocytes, has been studied as a biomarker of glial and neuronal damage in epilepsy. The present study investigated the reliability of serum S100B as a biomarker and the effect of carbamazepine and oxcarbazepine on serum S100B in patients with focal seizure.MethodsThe present randomized, open-label, active-controlled, parallel design clinical trial (NCT02705768) conducted on 60 patients with focal seizure. After recruitment, clinical evaluations were performed including Chalfont-National Hospital seizure severity scale (NHS3), Quality of Life in Epilepsy Inventory (QOLIE-31) an...
Source: Journal of Neurology - September 1, 2018 Category: Neurology Source Type: research

Prospective study of relevance of 123 I-MIBG myocardial scintigraphy and clonidine GH test to distinguish Parkinson ’s disease and multiple system atrophy
ConclusionCombinations of myocardial scintigraphy with genitourinary dysfunction, levodopa response of>  30%, or orthostatic hypotension could be of interest for the distinction between PD and MSA when the clinical diagnosis remains ambiguous at the first stage of the disease. (Source: Journal of Neurology)
Source: Journal of Neurology - August 28, 2018 Category: Neurology Source Type: research

Correction to: Carotid endarterectomy in patients with recurrent symptoms associated with an ipsilateral carotid artery near occlusion with full collapse
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - August 27, 2018 Category: Neurology Source Type: research

Correction to: Myelin oligodendrocyte glycoprotein antibody-associated disease: characterising clinical disease
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - August 27, 2018 Category: Neurology Source Type: research

Vertigo and impaired pursuit eye movements in a small medial superior temporal infarction
(Source: Journal of Neurology)
Source: Journal of Neurology - August 23, 2018 Category: Neurology Source Type: research

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ConclusionsThe detection of theCSF1R mutation outside of the region-encoding TKD may extend the genetic spectrum of ALSP withCSF1R mutations. Mutational analysis of all the coding exons ofCSF1R should be considered for patients clinically suspected of having ALSP. (Source: Journal of Neurology)
Source: Journal of Neurology - August 22, 2018 Category: Neurology Source Type: research

New treatments in Alzheimer ’s disease
(Source: Journal of Neurology)
Source: Journal of Neurology - August 21, 2018 Category: Neurology Source Type: research

Initiating anticoagulant therapy after ICH is associated with patient characteristics and treatment recommendations
AbstractBackgroundThe proportion of patients with intracerebral hemorrhage (ICH) and concomitant indication for oral anticoagulant (OAC) therapy is increasing. Although recent studies documented a favorable risk –benefit profile of OAC initiation, deciding whether, when, and which OAC should be started remains controversial. We investigated (1) OAC recommendations, its implementation, and adherence and (2) factors associated with OAC initiation after ICH.MethodsThis prospective observational study analyzed consecutive ICH patients (n = 246) treated at the neurological and neurosurgical department of the...
Source: Journal of Neurology - August 20, 2018 Category: Neurology Source Type: research

Stroke recurrence and mortality in northeastern Greece: the Evros Stroke Registry
AbstractUp to date there is no population-based study from Greece providing long-term data on incidence of both all-cause mortality and stroke recurrence for patients with first ever stroke (FES). Adult patients with FES were registered during a 24-month period (2010 –2012) and followed-up for 12 months. We calculated cumulative incidences of stroke mortality and recurrence. Univariable and multivariable Cox proportional hazards regression analyses were used to identify independent determinants of 1-year mortality and 1-year stroke recurrence. We prospectivel y documented 703 first ever stroke cases (mean age 75...
Source: Journal of Neurology - August 20, 2018 Category: Neurology Source Type: research

Mitochondrial DNA mutations in late-onset Leigh syndrome
AbstractLeigh syndrome (LS) is an early onset progressive neurodegenerative disorder with considerable clinical and genetic heterogeneities. Late-onset Leigh syndrome, i.e., onset after age of 2 years, is considered rare and often presents with atypical clinical features. We review the clinical features and imaging studies in a cohort of late-onset Leigh syndrome caused by mtDNA mutations. A total of 16 patients, 6 males and 10 females, were enrolled. The age at presentation was between 2 and 27  years of age. The first three clinical presentations found in our case series were ataxia, bulbar palsy, and pyramidal trac...
Source: Journal of Neurology - August 20, 2018 Category: Neurology Source Type: research

Aspirin plus clopidogrel may reduce the risk of early neurologic deterioration in ischemic stroke patients carrying CYP2C19 * 2 reduced-function alleles
ConclusionsDual therapy with clopidogrel and aspirin may be adequate for prevention of END in carriers ofCYP2C19 reduced-function alleles, but not for noncarriers. Our findings may be useful to guide precise antiplatelet therapy, and decrease the risk of END. (Source: Journal of Neurology)
Source: Journal of Neurology - August 20, 2018 Category: Neurology Source Type: research

Subacute encephalopathy with seizures in alcoholics (SESA) syndrome: further evidence supporting that may lie on the ictal-interictal continuum
(Source: Journal of Neurology)
Source: Journal of Neurology - August 18, 2018 Category: Neurology Source Type: research

Magnetic resonance imaging in Alzheimer ’s disease and mild cognitive impairment
AbstractResearch utilizing magnetic resonance imaging (MRI) has been crucial to the understanding of the neuropathological mechanisms behind and clinical identification of Alzheimer ’s disease (AD) and mild cognitive impairment (MCI). MRI modalities show patterns of brain damage that discriminate AD from other brain illnesses and brain abnormalities that are associated with risk of conversion to AD from MCI and other behavioural outcomes. This review discusses the application of various MRI techniques to and their clinical usefulness in AD and MCI. MRI modalities covered include structural MRI, diffusion tensor imagi...
Source: Journal of Neurology - August 17, 2018 Category: Neurology Source Type: research

Cluster headache: pathophysiology, diagnosis and treatment
AbstractCluster headache (CH) is characterized by attacks of severe, strictly unilateral pain that is orbital, supraorbital, temporal, or any combination of these, lasts 15 –180 min, and occurs from once every other day to eight times a day. The pain is associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis and/or eyelid edema, and/or with restlessness or agitation. The understandin g of the pathophysiological mechanisms behind CH is far from complete, but CH is considered to be a neurovascular and chronobiologic headache disord...
Source: Journal of Neurology - August 17, 2018 Category: Neurology Source Type: research

Windmill nystagmus in a patient with subacute visual loss
(Source: Journal of Neurology)
Source: Journal of Neurology - August 17, 2018 Category: Neurology Source Type: research

Moyamoya angiopathy: early postoperative course within 3 months after STA –MCA–bypass surgery in Europe—a retrospective analysis of 64 procedures
ConclusionRevasculating surgery is a safe procedure in Caucasian patients with Moyamoya angiopathy. The observed complications have a good prognosis. (Source: Journal of Neurology)
Source: Journal of Neurology - August 17, 2018 Category: Neurology Source Type: research

Correction to: Effectiveness of Rotigotine plus intensive and goal ‑based rehabilitation versus Rotigotine alone in “de‑novo” Parkinsonian subjects: a randomized controlled trial with 18‑month follow‑up
The original version of this article unfortunately contained a mistake. The funding information was incorrect. The corrected funding information is given below. (Source: Journal of Neurology)
Source: Journal of Neurology - August 17, 2018 Category: Neurology Source Type: research

Paradoxical elevation of plasma dabigatran after reversal with idarucizumab in stroke thrombolysis
(Source: Journal of Neurology)
Source: Journal of Neurology - August 16, 2018 Category: Neurology Source Type: research

Vertebral artery hypoplasia: an innocent lamb or a disguise?
In this study, we correlated extra- and intra-cranial vertebral artery ultrasound findings with brain CT/MRI and clinical outcome.Materials and methodsWe recruited all consecutive first-ever stroke patients with a documented acute ischemic brain lesion and a complete extra-intracranial ultrasound evaluation. Those with previous stroke, or with anterior and posterior strokes were excluded. The prevalence of VAH diagnosed by ultrasound was recorded both in anterior circulation and posterior circulation infarctions. In the latter group, we compared the risk profile, topographic and neuroradiological lesion features, etiology ...
Source: Journal of Neurology - August 16, 2018 Category: Neurology Source Type: research

Does normal substantia nigra echogenicity make a difference in Parkinson ’s disease diagnosis? A real clinical practice follow-up study
AbstractObjectivesSubstantia nigra hyperechogenicity (SN+) detected by transcranial ultrasound (TUS) is useful for Parkinson ’s disease (PD) diagnosis. Approximately 15% false negative results of unknown significance are reported. However, most TUS studies are transversal, and diagnosis of PD may change during follow-up.MethodsAnalysis of our prospective registry of TUS in clinical practice, selecting patients with sufficient bone window, to whom TUS was performed because of suspected PD, and a minimum of 3-year follow-up. Subjects were classified regarding SN echogenicity (SN+/SN −).Results172 patients (122 SN...
Source: Journal of Neurology - August 16, 2018 Category: Neurology Source Type: research

Diagnostic and prognostic power of CSF Tau in amyotrophic lateral sclerosis
This study aims to evaluate the diagnostic and prognostic potential of CSF total Tau (t-Tau), phospho-Tau (p-Tau) and p-Tau/t-Tau ratio in ALS patients using CSF neurofilament light (NFL) as the reference biomarker.MethodsEighty-five incident ALS, 30 ALS-mimicking (AM) diseases and 51 other non-neurodegenerative diseases (ONND) were included in the study.ResultsALS patients had higher levels of CSF t-Tau and lower p-Tau/t-Tau ratio than AM (p = 0.005 andp = 0.006) and ONND (p 
Source: Journal of Neurology - August 16, 2018 Category: Neurology Source Type: research

Clinical, imaging, and histological presentations and outcomes of stroke related to sarcoidosis
ConclusionsCerebrovascular events may be the first manifestation of neurosarcoidosis, and have a prognosis impact in such patients, leading to death and permanent neurological impairment. (Source: Journal of Neurology)
Source: Journal of Neurology - August 14, 2018 Category: Neurology Source Type: research

Anti-JC virus antibody index changes in rituximab-treated multiple sclerosis patients
AbstractRituximab, a monoclonal antibody to CD20, is an effective treatment for relapsing remitting multiple sclerosis (MS) reducing relapse rate by at least 50% over time. Although the mechanism for this clinical benefit is unclear, rituximab depletes circulating B cells, which can perform antigen presentation and stimulation of T cells. Another anti-CD20 drug, ocrelizumab, has recently been FDA approved to treat both relapsing remitting and progressive forms of MS. While long-term effects of ocrelizumab use are essentially unknown, long-term use of rituximab has been associated with the development of progressive multifo...
Source: Journal of Neurology - August 14, 2018 Category: Neurology Source Type: research

Impaired brain response to odors in patients with varied severity of olfactory loss after traumatic brain injury
AbstractTraumatic brain injury (TBI) as a major public health problem may lead to olfactory dysfunction. However, little is known about brain responses to odors in TBI olfactory loss patients. Nineteen healthy controls and forty TBI olfactory dysfunctional patients (19 with hyposmia and 21 with anosmia) underwent a functional magnetic resonance imaging scan when two odors (peach and coffee) were presented intranasally using a computerized olfactometer. Olfactory performance was measured using the “Sniffin’ Sticks” test. TBI patients with hyposmia or anosmia showed decreased odor-induced brain activations ...
Source: Journal of Neurology - August 14, 2018 Category: Neurology Source Type: research

Fatigue in patients with myasthenia gravis
ConclusionFatigue in MG is highly prevalent, mainly physical, and influenced by depressive symptoms, disease severity, female sex and sleep debt. Cognitive fatigue in MG may not be a direct disease manifestation, but secondary to depression. The FSS and FIS represent reliable and validated tools, appropriate to discern meaningful clinical aspects of fatigue in MG. Clinical recognition of the complexity of fatigue may foster individualized treatment approaches for affected MG patients. (Source: Journal of Neurology)
Source: Journal of Neurology - August 11, 2018 Category: Neurology Source Type: research

Pierre Mollaret (1898 –1987)
(Source: Journal of Neurology)
Source: Journal of Neurology - August 10, 2018 Category: Neurology Source Type: research

The video head impulse test: a right –left imbalance
(Source: Journal of Neurology)
Source: Journal of Neurology - August 6, 2018 Category: Neurology Source Type: research

Compromised tDCS-induced facilitation of motor consolidation in patients with multiple sclerosis
ConclusionAbsence of post-training tDCS-induced facilitation of consolidation in patients with MS suggests that the interaction of tDCS with the motor consolidation network is inefficient. Identification of the underlying disease-related mechanisms will have important implications for the design of studies aiming to promote motor recovery in MS by non-invasive brain stimulation. (Source: Journal of Neurology)
Source: Journal of Neurology - August 6, 2018 Category: Neurology Source Type: research