Assessment of muscular strength and functional capacity in  the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study
ConclusionQuantified muscle testing is a better indicator of disease progression over a 3-year period than functional tests. Phenotype and sex are important factors that influence the progression of DM1. (Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

Cutaneous diseases related to a hyperactive T-cell response in ocrelizumab-treated multiple sclerosis patients
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

CMV meningitis associated with dimethyl fumarate therapy-induced lymphopenia in a multiple sclerosis patient
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

Spontaneous spinal cord ischemia during COVID-19 infection
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

Correction to: Prevalence of freezing of gait in Parkinson ’s disease: a systematic review and meta-analysis
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

Correction to: Sleep disturbances in craniopharyngioma: a challenging diagnosis
(Source: Journal of Neurology)
Source: Journal of Neurology - October 13, 2021 Category: Neurology Source Type: research

Real-world application of autologous hematopoietic stem cell transplantation in 507 patients with multiple sclerosis
AbstractObjectiveTo investigate the results of real-world application of non-myeloablative autologous HSCT for multiple sclerosis (MS).MethodsBetween July 2003 and October 2019 at a single center (Northwestern University), 414 patients with relapsing remitting MS (RRMS) and 93 patients with newly diagnosed secondary progressive MS (SPMS) underwent non-myeloablative HSCT.ResultsThere was one treatment-related death (0.19%) due to hospital-acquired legionella pneumonia, and one patient developed neutropenic bacteremia (Klebsiella pneumonia) without sepsis. Overall 5-year survival was 98.8%. Post HSCT secondary autoimmune dis...
Source: Journal of Neurology - October 11, 2021 Category: Neurology Source Type: research

Early and unrestricted access to high-efficacy disease-modifying therapies: a consensus to optimize benefits for people living with multiple sclerosis
AbstractEarly intervention with high-efficacy disease-modifying therapy (HE DMT) may be the best strategy to delay irreversible neurological damage and progression of multiple sclerosis (MS). In European healthcare systems, however, patient access to HE DMTs in MS is often restricted to later stages of the disease due to restrictions in reimbursement despite broader regulatory labels. Although not every patient should be treated with HE DMTs at the initial stages of the disease, early and unrestricted access to HE DMTs with a positive benefit –risk profile and a reasonable value proposition will provide the freedom o...
Source: Journal of Neurology - October 9, 2021 Category: Neurology Source Type: research

Intravenous thrombolysis in patients with central retinal artery occlusion: a systematic review and meta-analysis
ConclusionsIVT treatment might be effective and safe for CRAO patients, but ocular-specific complications which were not associated with thrombolysis could affect final visual acuity. (Source: Journal of Neurology)
Source: Journal of Neurology - October 9, 2021 Category: Neurology Source Type: research

FLAIR2 post-processing: improving MS lesion detection in standard MS imaging protocols
Conclusions3D-FLAIR2 is an easily applicable time-sparing MR post-processing method to improve cortical lesion detection. Larger sampled studies are warranted to validate the sensitivity and specificity of 3D-FLAIR2. (Source: Journal of Neurology)
Source: Journal of Neurology - October 8, 2021 Category: Neurology Source Type: research

Brain network topology and future development of freezing of gait in Parkinson ’s disease: a longitudinal study
ConclusionThis study demonstrates the disrupted regional topological organization might contribute to the future development of FOG in PD patients, especially associated with damage to the left MFG. (Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2021 Category: Neurology Source Type: research

Safety and outcomes of endovascular treatment in patients with very severe acute ischemic stroke
ConclusionsIn patients with very severe neurological deficit, EVT was safe and successful recanalization was strongly associated with better functional outcome at 90  days. (Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2021 Category: Neurology Source Type: research

Effects on cognition of DMTs in multiple sclerosis: moving beyond the prevention of inflammatory activity
AbstractIn this review, we critically summarize recent findings derived from randomized controlled trials (RCTs), observational studies and meta-analyses that have been published in the last 3  years and that included the effects of DMTs on cognitive performances among their outcomes. (Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2021 Category: Neurology Source Type: research

COVID-19-related severe MS exacerbation with life-threatening Takotsubo cardiomyopathy in a previously stable patient and interference of MS therapy with long-term immunity against SARS-CoV-2
(Source: Journal of Neurology)
Source: Journal of Neurology - October 7, 2021 Category: Neurology Source Type: research

Characteristics of clinical relapses and patient-oriented long-term outcomes of patients with anti-N-methyl-d-aspartate receptor encephalitis
AbstractObjectiveThe main syndrome of anti-N-methyl-d-aspartate receptor encephalitis (NMDARE) is well-characterized, however, the difference in main symptoms between the initial episode and relapses and patient-oriented long-term outcomes has not been previously described.MethodsTo investigate the difference in syndrome symptoms between episodes and patient-oriented outcomes, we administered a structured questionnaire survey for the patients with anti-NMDARE or their family members. From the answers, we analyzed the frequency of main symptoms (e.g., prodromes, abnormal behaviors, memory deficit, speech disorders, involunt...
Source: Journal of Neurology - October 6, 2021 Category: Neurology Source Type: research

Vaccine-induced immune thrombosis and thrombocytopaenia: incidence, mechanism and treatment
(Source: Journal of Neurology)
Source: Journal of Neurology - October 6, 2021 Category: Neurology Source Type: research

SARS-CoV-2 antibody seroprevalence in a large neuroimmunological patient cohort
(Source: Journal of Neurology)
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Estimating the X chromosome-mediated risk for developing Alzheimer ’s disease
AbstractParental lineage has been shown to increase the risk of Alzheimer ’s disease (AD) in the offspring, with greater risk attributed to maternal lineage. While 40 genes/loci have been linked to the risk of developing AD, none has been found on the X chromosome. We propose a new method to estimate the risk for developing AD mediated by the X chromosome in a subgroup of late-onset AD (LOAD) patients with amnestic mild cognitive impairment (aMCI) or early AD and unilateral ancestral history of AD or dementia, and pilot-test it on our clinic data. Records of patients aged 55–80 years presenting to our Memo...
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Alzheimer ’s disease clinical trial update 2019–2021
AbstractThe current clinical trial landscape targeting Alzheimer ’s disease (AD) is reviewed in the context of studies completed from 2019 to 2021. This review focuses on available data for observational and phase II/III clinical trial results, which will have the most impact on the field. ClinicalTrials.gov, the United States (US) comprehensive federal registr y, was queried to identify completed trials. There are currently 226 interventional clinical trials and 51 observational studies completed, suspended, terminated, or withdrawn within our selected time frame. This review reveals that the role of biomarkers is e...
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Hyperactive and cross-coupled head impulse signs in recurrent strokes: clinical signs of global cerebellar dysfunction
(Source: Journal of Neurology)
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Case report: cerebral sinus vein thrombosis in two patients with AstraZeneca SARS-CoV-2 vaccination
In this report, we present the case of two young female patients with newly diagnosed cerebral sinus vein thrombosis occurring after injection of the vector-based ChAdOx1 vaccine. Both patients presented with unusual headache only. The two of them used an estrogen-containing contraception, had had a history of deep venous thrombosis, and both had MTHFR mutations. Both patients developed SARS-CoV-2 specific humoral and cellular immunity including both CD4 and CD8 T cells. This rare, but serious complication needs to be considered after vaccination of young females, even if there is no evidence of heparin-induced thrombocyto...
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Correction to: Shared Individual Formulation Therapy (SIFT): an open-label trial of a new therapy accommodating patient heterogeneity in functional neurological disorder
(Source: Journal of Neurology)
Source: Journal of Neurology - October 5, 2021 Category: Neurology Source Type: research

Associations of sleep disorders with cerebrospinal fluid α-synuclein in prodromal and early Parkinson’s disease
AbstractObjectivesOur aim is to investigate the associations of sleep disorders with cerebrospinal fluid (CSF) α-synuclein (α-syn) in healthy controls (HCs), and patients with prodromal and early Parkinson’s disease (PD).MethodsWe included a total of 575 individuals, consisting of 360 PD individuals, 46 prodromal PD individuals, and 169 HCs. Multiple linear regression models and linear mixed-effects models were used to investigate the associations of sleep disorders with baseline and longitudinal CSF α-syn. Associations between the change rates of sleep disorders and CSF α-syn were further inv...
Source: Journal of Neurology - October 4, 2021 Category: Neurology Source Type: research

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort
We describe a cohort of Irish patients with recessiveSPG7-associated phenotype.MethodsComprehensive phenotyping was performed with documentation of clinical, neurophysiological, optical coherence tomography (OCT) and genetic data from individuals withSPG7 attending two academic neurology units in Dublin, including the National Ataxia Clinic.ResultsThirty-two symptomatic individuals from 25 families were identified. Mean age at onset was  39.1 years (range 12–61), mean disease duration 17.8 years (range 5–45), mean disease severity as quantified with the scale for the assessment and rating of atax...
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum
ConclusionsOur data support the presence of two different genetic components underlying ALS pathogenesis, related to the presence of a family history for ALS or other neurodegenerative diseases. Thus, family history may help in optimizing the genetic screening protocol to be applied. (Source: Journal of Neurology)
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Hospital admissions of acute cerebrovascular diseases during and after the first wave of the COVID-19 pandemic: a state-wide experience from Austria
AbstractWe investigated hospital admission rates for the entire spectrum of acute cerebrovascular diseases and of recanalization treatments for ischaemic stroke (IS) in the Austrian federal state of Styria during and also after the first coronavirus disease 2019 (COVID-19) wave. We retrospectively identified all patients with transient ischaemic attack (TIA), IS and non-traumatic intracranial haemorrhage (ICH; including intracerebral, subdural and subarachnoid bleeding types) admitted to one of the 11 public hospitals in Styria (covering  >  95% of inhospital cerebrovascular events in this region). Informa...
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Do arachnoid cysts grow? A retrospective volumetric study
ConclusionsMost ACs remain constant in size or become smaller.Classification of evidenceThis study provides Class III evidence that the majority of arachnoid cysts does not grow. (Source: Journal of Neurology)
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Negative anti-SARS-CoV-2 S antibody response following Pfizer SARS-CoV-2 vaccination in a patient on ocrelizumab
(Source: Journal of Neurology)
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Correction to: Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort
The original version of this article unfortunately contained a mistake. (Source: Journal of Neurology)
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Correction to: Late ‑onset Huntington’s disease associated with CAG repeat lengths of 30 and 31
(Source: Journal of Neurology)
Source: Journal of Neurology - September 27, 2021 Category: Neurology Source Type: research

Narcolepsy genetic marker HLA DQB1*06:02 and excessive daytime sleepiness in Parkinson disease patients treated with dopaminergic agents
ConclusionPD individuals are more likely to experience EDS and fall asleep inappropriately during activities if DQB1*0602 positive. Genetic vulnerability may explain EDS risk in PD. (Source: Journal of Neurology)
Source: Journal of Neurology - September 24, 2021 Category: Neurology Source Type: research

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
ConclusionWBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool. (Source: Journal of Neurology)
Source: Journal of Neurology - September 24, 2021 Category: Neurology Source Type: research

A man with sensation of cold water running down the face
(Source: Journal of Neurology)
Source: Journal of Neurology - September 24, 2021 Category: Neurology Source Type: research

Does visuospatial motion perception correlate with coexisting movement disorders in Parkinson ’s disease?
AbstractPostural instability and balance impairment are common in Parkinson's disease (PD). Multiple factors, such as increased tone, bradykinesia, freezing of gait, posture, axial stiffness, and involuntary appendicular movements, can affect balance. The recent studies found that PD patients have abnormal perception of self-motion in vestibular domain. We asked whether measures of balance function, such as perception of one ’s motion, correlate with specific movement disorders seen in PD. Moving retinal image or self-motion in space triggers the perception of self-motion. We measured one’s linear motion (headi...
Source: Journal of Neurology - September 23, 2021 Category: Neurology Source Type: research

James Samuel Risien Russell (1863 –1939)
(Source: Journal of Neurology)
Source: Journal of Neurology - September 22, 2021 Category: Neurology Source Type: research

Pioneers in neurology: Charles Miller Fisher (1913 –2012)
(Source: Journal of Neurology)
Source: Journal of Neurology - September 22, 2021 Category: Neurology Source Type: research

Predictive semiology of psychogenic non-epileptic seizures in an epilepsy monitoring unit
AbstractIntroductionThe diagnosis of psychogenic nonepileptic seizures (PNES) is a common clinical dilemma. We sought to assess the diagnostic value of four ictal signs commonly used in differentiating PNES from epileptic seizures (ES).MethodsWe retrospectively reviewed consecutive adult video-electroencephalogram (VEM) studies conducted at a single tertiary epilepsy center between May 2009 and August 2016. Each event was assessed by a blinded rater for the presence of four signs: fluctuating course, head shaking, hip thrusting, and back arching. The final diagnosis of PNES or ES was established for each event based on cli...
Source: Journal of Neurology - September 22, 2021 Category: Neurology Source Type: research

Natalizumab-induced pneumonitis
(Source: Journal of Neurology)
Source: Journal of Neurology - September 22, 2021 Category: Neurology Source Type: research

Autoimmune encephalitis: clinical presentation, investigation and treatment
(Source: Journal of Neurology)
Source: Journal of Neurology - September 21, 2021 Category: Neurology Source Type: research

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy
DiscussionThis family demonstrates that the phenotypic spectrum associated withKCNT1 pathogenic variants is broader than previously assumed. Our findings indicate that variants inKCNT1 can be associated with mild focal epilepsy and should not be excluded during variant interpretation in such patients based solely on gene –disease validity. (Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2021 Category: Neurology Source Type: research

Psychological assessment of individuals with Mal de D ébarquement Syndrome
ConclusionsPsychological profiles of MdDS relate to disability but not to duration of illness. (Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2021 Category: Neurology Source Type: research

The spectrum and differential diagnosis of acquired ocular motor nerve palsies: a clinical study of 502 patients
ConclusionInflammation and space-occupying processes were the most frequent causes of OMNP, although brainstem infarctions also play a significant role, in particular in CNP III. The presence of additional CNPs increases the probability of an inflammatory or space-occupying cause. (Source: Journal of Neurology)
Source: Journal of Neurology - September 19, 2021 Category: Neurology Source Type: research

Shared Individual Formulation Therapy (SIFT): an open-label trial of a new therapy accommodating patient heterogeneity in functional neurological disorder
AbstractBackgroundFunctional Neurological Disorder (FND) is a complex neuropsychiatric condition with a multifactorial aetiology. The heterogeneity of patients with FND is rarely considered in psychotherapy trials, which may contribute to variable outcomes. Shared Individual Formulation Therapy (SIFT) is a new, brief (four session) psychotherapy that aims to accommodate heterogeneity by providing a personalised, trans-theoretical formulation of the person ’s difficulties and accompanying management plan.MethodsAn open-label, prospective trial of outpatient SIFT for adults with FND was conducted, using health-related ...
Source: Journal of Neurology - September 19, 2021 Category: Neurology Source Type: research

Unexpected (123I)FP-CIT SPECT findings: SWIDD, SWEDD and all DAT
AbstractAlthough the diagnosis of Parkinson ’s disease (PD) is essentially clinical, the implementation of imaging techniques can improve diagnostic accuracy. While some techniques (e.g. magnetic resonance imaging—MRI, computerized tomography—CT) are used to exclude secondary syndromes, presynaptic dopaminergic imaging including imaging of dopamine transporter (DAT)—can help the Neurologist in the differential diagnosis between neurodegenerative parkinsonian syndromes and parkinsonism without dopamine deficiency. DAT imaging can be useful in cases in which the clinical picture is not univocal, as in...
Source: Journal of Neurology - September 18, 2021 Category: Neurology Source Type: research

Increased risk of death from COVID-19 in multiple sclerosis: a pooled analysis of observational studies
ConclusionsOur pooled analysis suggests a 24%-increased risk of death from COVID-19 in patients with MS. These findings must be interpreted with caution, mainly because of the difficulties in COVID-19 case detection (especially in the first pandemic wave) and heterogeneity of the analyzed cohorts. Confirmation in larger population-based studies is warranted. (Source: Journal of Neurology)
Source: Journal of Neurology - September 17, 2021 Category: Neurology Source Type: research

Sleep disturbances in craniopharyngioma: a challenging diagnosis
We report two cases of patients with craniopharyngioma, who came to our attention due t o the occurrence of episodes characterized by psychomotor slowing and afinalistic limb movements, temporal and spatial disorientation, psychomotor agitation, and oneiric stupor like episodes. A comprehensive clinical data collection and a targeted diagnostic work-up led to a diagnosis of severe slee p disorder characterized by hypersomnia, altered sleep–wake rhythm, and sleep-related breathing disorder. In addition, the polysomnography revealed peculiar alterations in the sleep structure. The diagnostic work-up lead to an accurate...
Source: Journal of Neurology - September 14, 2021 Category: Neurology Source Type: research

Thrombectomy with or without thrombolysis in patients with acute ischemic stroke: a systematic review and meta-analysis
ConclusionsOutcomes were similar for d-MT and IVT  + MT, with d-MT having a lower risk of any ICH. We need to focus on precision medicine in the future.RegistrationURL:http://inplasy.com; Unique identifier: INPLASY202130094. (Source: Journal of Neurology)
Source: Journal of Neurology - September 14, 2021 Category: Neurology Source Type: research

Eduard Gamper (1887 –1938): cases and accidents
AbstractEduard Gamper (1887 –1938) was Head of the Department of Neuropsychiatry at the Charles University’s German Faculty of Medicine in Prague. He had trained in Innsbruck, where he undertook groundbreaking work on the midbrain in an anencephalic child and in a series of patients who had died from Wernicke’s encephalo pathy. Gamper identified the mamillary bodies as key in the performance of declarative memory. Considered an expert in memory disorders, he was chosen by the Medical Faculty in Innsbruck to provide expert opinion on the notorious case of Philipp Halsmann, who was suspected of murdering hi...
Source: Journal of Neurology - September 13, 2021 Category: Neurology Source Type: research

Glymphatic system dysfunction in patients with juvenile myoclonic epilepsy
ConclusionThis study is the first in which the ALPS method was used to demonstrate that patients with JME have significant glymphatic system dysfunction. The results also show that glymphatic system index is negatively correlated with age in patients with JME, a finding which demonstrates that the glymphatic system function of patients with JME gradually declines with age. The ALPS-index might be a potential biomarker for monitoring glymphatic system function in patients with epilepsy. (Source: Journal of Neurology)
Source: Journal of Neurology - September 12, 2021 Category: Neurology Source Type: research

Cerebral amyloid angiopathy-related acute lobar intra-cerebral hemorrhage: diagnostic value of plain CT
ConclusionsIn patients with moderate-size l-ICH who mostly survived the index event, SAH had perfect sensitivity and better performance than FLP. In addition, SAH appeared to add onto MRI in possible CAA, the clinically most relevant scenario. Studies in larger samples are however warranted. (Source: Journal of Neurology)
Source: Journal of Neurology - September 12, 2021 Category: Neurology Source Type: research