Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
ConclusionIn our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. (Source: Journal of Neurology)
Source: Journal of Neurology - May 7, 2019 Category: Neurology Source Type: research

Seizures and epilepsy in multiple sclerosis: epidemiology and prognosis in a large tertiary referral center
ConclusionOur study shows a lower number of seizures and epilepsy in MS than previously reported. While a single seizure in MS usually has a good prognosis, relapse-associated seizures and established epilepsy in MS may not be as benign as previously assumed. (Source: Journal of Neurology)
Source: Journal of Neurology - May 7, 2019 Category: Neurology Source Type: research

Video head impulse test contributes to Susac syndrome diagnosis
(Source: Journal of Neurology)
Source: Journal of Neurology - May 6, 2019 Category: Neurology Source Type: research

Idiopathic acute high-tone sensorineural hearing loss accompanied by vertigo: vestibulo-cochlear artery syndrome? Consideration based on VEMP and vHIT
(Source: Journal of Neurology)
Source: Journal of Neurology - May 6, 2019 Category: Neurology Source Type: research

Insufficient image quality
(Source: Journal of Neurology)
Source: Journal of Neurology - May 5, 2019 Category: Neurology Source Type: research

Can histologically normal epileptogenic zone share common electrophysiological phenotypes with focal cortical dysplasia? SEEG-based study in MRI-negative epileptic patients
ConclusionsHistologically normal and FCD-associated epileptogenic zones share distinct interictal and ictal electrophysiological phenotypes, with common patterns between FCD subtypes and between dysplastic and apparently normal brain.SignificanceSome specific seizure-onset patterns seem to be predictive of the underlying histology and may help to detect an MRI-invisible FCD. (Source: Journal of Neurology)
Source: Journal of Neurology - May 3, 2019 Category: Neurology Source Type: research

Season of birth and multiple sclerosis: a systematic review and multivariate meta-analysis
AbstractSeason of birth is considered to be associated with multiple sclerosis (MS) although some findings opposing to this assumption raise doubts about the seasonality pattern in MS births. The present work synthesizes the evidence of previous published studies aiming at examining whether the month of birth is associated with a higher number of MS births. Pubmed and Scopus were systematically searched and a multivariate meta-analysis of case –control studies was conducted. Data of healthy controls births were retrieved from census reports when not included in the studies. For comparisons, October was set as a refer...
Source: Journal of Neurology - May 3, 2019 Category: Neurology Source Type: research

Screening performance of abbreviated versions of the UPSIT smell test
ConclusionUsing abbreviated smell tests could provide a cost-effective means of large-scale hyposmia screening, allowing more targeted UPSIT administration in general and PD-related settings. (Source: Journal of Neurology)
Source: Journal of Neurology - May 2, 2019 Category: Neurology Source Type: research

Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice
ConclusionWe show that treatment of cervical dystonia with the two most frequently used botulinum toxin A preparations is a safe and effective therapy even over a long treatment duration of up to 27  years. (Source: Journal of Neurology)
Source: Journal of Neurology - May 1, 2019 Category: Neurology Source Type: research

Approach to an experimental model of Mal de Debarquement Syndrome
ConclusionSubsequent neurophysiological and imaging examinations are required to investigate whether the model of transient, experimental MdDS actually shares a common substrate with the enduring pathological condition of MdDS. (Source: Journal of Neurology)
Source: Journal of Neurology - May 1, 2019 Category: Neurology Source Type: research

Cortical microinfarcts in patients with multiple lobar microbleeds on 3  T MRI
AbstractThe pathogenesis of cortical microinfarcts (CMIs) is considered to be heterogeneous including cerebral small vessel disease (SVD) such as hypertensive vasculopathy (HV) and cerebral amyloid angiopathy (CAA). Recent advances in MRI have enabled the detection of CMIs in vivo. To investigate the characteristics of CMIs in advanced cerebral SVD, we performed a retrospective analysis of 85 patients with cognitive impairment who had multiple lobar cerebral microbleeds (CMBs) on 3  T MRI. Among them, 41 (48.2%) patients were classified into the strictly lobar CMB group (i.e. probable-CAA group), and 44 (51.8%) patien...
Source: Journal of Neurology - May 1, 2019 Category: Neurology Source Type: research

The observation period after clinical brain death diagnosis according to ancillary tests: differences between supratentorial and infratentorial brain injury
ConclusionsWe found important differences in the confirmation of BD diagnosis between primary supratentorial and infratentorial lesion, and identified an optimal OBP of 2  h in patients with supratentorial lesions. By contrast, in primary posterior fossa/infratentorial lesions, the determination of an optimal OPB remains less accurate and hence more challenging. (Source: Journal of Neurology)
Source: Journal of Neurology - May 1, 2019 Category: Neurology Source Type: research

Specific mechanisms of subarachnoid hemorrhage accompanied by ischemic stroke in essential thrombocythemia: two case reports and a literature review
ConclusionsThe current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated withJAK2 V617F mutation. (Source: Journal of Neurology)
Source: Journal of Neurology - May 1, 2019 Category: Neurology Source Type: research

Color perception impairment following optic neuritis and its association with retinal atrophy
ConclusionsImpaired chromatic discrimination thresholds quantitatively document persistent functional complaints after ON. There is evidence of dysfunction in both the affected eye and the fellow eye. (Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation
We report a case of a 58-year-old woman with nfvPPA diagnosis (age at onset  = 55) previously described as a crossed aphasia case with progranulin mutation. At 2 years from the first visit, patient underwent 3DT1-weighted and a task-based functional MRI (fMRI). During the fMRI task, she was asked to perform a letter fluency test as the task of interest and to count for ward as the control condition. Image processing and data analysis were performed using SPM12 and the effect of each task was tested atp 
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Postural control during galvanic vestibular stimulation in patients with persistent perceptual –postural dizziness
AbstractOver the past years galvanic vestibular stimulation (GVS) has been increasingly applied to stimulate the vestibular system in health and disease, but not in patients with persistent postural –perceptual dizziness (PPPD) yet. We functionally tested motion perception thresholds and postural responses to imperceptible noisy (nGVS) and perceptible bimastoidal GVS intensities in patients with PPPD with normal vestibulo-ocular reflexes. We hypothesized that GVS destabilizes PPPD patients un der simple postural conditions stronger compared to healthy controls. They were compared to healthy subjects under several con...
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Predicting cognitive decline with non-clinical markers in Parkinson ’s disease (PRECODE-2)
AbstractObjectivesTo investigate whether baseline [123I]FP-CIT SPECT and CSF markers can predict cognitive impairment (CI) in PD patients, and provide a profile of those most at risk.Methods262 de novo PD patients from the Parkinson ’s Progression Markers Initiative database were stratified into two CI groups at the 36-month follow-up: MoCA-defined diagnosis: PD patients who had a MoCA score 
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Ocrelizumab efficacy in subgroups of patients with relapsing multiple sclerosis
ConclusionsThe treatment effect of ocrelizumab versus IFN β-1a, measured by clinical and MRI outcomes, was maintained across most of the subgroups and strata of interest, and the pattern of treatment benefit across all subgroups was consistent with that from the pooled OPERA studies. (Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Writing, reading, and speaking in blepharospasm
AbstractThe aim of the study was to evaluate the effects of writing, reading, and speaking on orbiculari oculi (OO) muscle spasms and on the blink rate in patients with blepharospasm (BSP). Patients with hemifacial spasm (HFS) and healthy subjects (HS) acted as control subjects. Thirty patients with BSP, 20 patients with primary HFS and 20 age-matched healthy subjects were videotaped according to a standardized procedure: at rest with eyes open; while writing a standard sentence on paper; while writing a standard sentence on a blackboard keeping the head straight; during a conversation based on a simple topic (speaking tas...
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Misdiagnoses and delay of diagnoses in Moyamoya angiopathy —a large Caucasian case series
ConclusionsThis is the first systematic report which shows that patients with MMA are at high risk to be falsely diagnosed and treated. Depiction of typical vascular abnormalities in angiopathy is essential. Normal CSF cell counts, negative oligoclonal bands, and lack of infratentorial lesions as well as gadolinium-positive T1 lesions on MRI may be red flags differentiating this vasculopathy from vasculitis and MS. (Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Resolution of apathy after dorsal instead of ventral subthalamic deep brain stimulation for Parkinson ’s disease
(Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Two cases of diabetes mellitus type 1 after alemtuzumab treatment for multiple sclerosis: another probable secondary autoimmune disease
(Source: Journal of Neurology)
Source: Journal of Neurology - April 16, 2019 Category: Neurology Source Type: research

Motor, cognitive and behavioral differences in MDS PSP phenotypes
ConclusionAvailable clinical assessments hardly capture differences between PSP phenotypes. The cognitive testing differentiating the PSP phenotypes were semantic fluency and ideomotor apraxia. In PSP, mild cognitive impairment likely represents an intermediate step from normal cognition to dementia. The only marker of PSP non-Richardson ’s syndrome phenotype was better performance in visuo-spatial testing. (Source: Journal of Neurology)
Source: Journal of Neurology - April 14, 2019 Category: Neurology Source Type: research

Hereditary neuropathy with liability to pressure palsies
AbstractHereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin sheaths by nerve biopsy. It is characterized genetically by the deletion of the chromosome 17p11.2 –p12 region including the peripheral myelin protein-22 gene in the overwhelming majority of cases. HNPP may be frequently underdiagnosed or misdiagnosed owing to the heterogeneity of clinical and e...
Source: Journal of Neurology - April 14, 2019 Category: Neurology Source Type: research

Prevalence and risk factors of stroke in the elderly in Northern China: data from the National Stroke Screening Survey
AbstractBackgroundThe overall global burden of stroke is considerable and increasing. In China, stroke is the leading cause of death and disability.MethodsFor this study, we used data from the National Stroke Screening Survey in 2012 and the 2010 Chinese population from sixth National Census of Populations to calculate a standardized (by age, gender, and education) stroke prevalence. Prevalence, risk factors, and management of stroke were compared by gender, age, and site.FindingsThe standardized prevalence rate of survival stroke patients in study population aged 60 and older was 4.94% in total. Hypertension was the most ...
Source: Journal of Neurology - April 14, 2019 Category: Neurology Source Type: research

Vernon B. Mountcastle (1918 –2015)
(Source: Journal of Neurology)
Source: Journal of Neurology - April 14, 2019 Category: Neurology Source Type: research

Occurrence of cerebral small vessel disease at diagnosis of MPO-ANCA-associated vasculitis
ConclusionInflammatory events are associated with the occurrence of cerebral SVD before clinical diagnosis of MPO-ANCA-positive AAV. The patients may be continuously exposed to the risk of cerebral SVD after immunosuppressive therapy. (Source: Journal of Neurology)
Source: Journal of Neurology - April 12, 2019 Category: Neurology Source Type: research

Retraction Note to: Juvenile-onset myasthenia gravis: autoantibody status, clinical characteristics and genetic polymorphisms
The Joint Editors-in-Chief have retracted this article [1] at the request of the University of Bergen and the Norwegian Board of Health Supervision. (Source: Journal of Neurology)
Source: Journal of Neurology - April 10, 2019 Category: Neurology Source Type: research

Balanced sex distribution in patients with Meni ère’s disease
(Source: Journal of Neurology)
Source: Journal of Neurology - April 9, 2019 Category: Neurology Source Type: research

Musical hallucinations and their relation with epilepsy
AbstractMusical hallucinations are poorly understood phenomena. Their relation with epilepsy was first described over a century ago, but never systematically explored. We, therefore, reviewed the literature, and assessed all descriptions of musical hallucinations attributed to epileptic activity. Our search yielded 191 articles, which together describe 983 unique patients, with 24 detailed descriptions of musical hallucinations related to epilepsy. We also describe six of our own patients. Based on the phenomenological descriptions and neurophysiological data, we distinguish four subgroups of epilepsy-related musical hallu...
Source: Journal of Neurology - April 9, 2019 Category: Neurology Source Type: research

Association between sleep disturbance in Alzheimer ’s disease patients and burden on and health status of their caregivers
ConclusionThis study demonstrated that sleep disturbance in AD patients was associated with an increased burden and poorer health status of caregivers. Our findings highlight the importance of sleep management in AD patients. (Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2019 Category: Neurology Source Type: research

Risk of traffic accidents after onset of vestibular disease assessed with a surrogate marker
ConclusionsAlthough these data were not originally collected to address the research question, they provide a valid body of evidence. There is no rationale for driving restrictions, which substantially interfere with the individuals ’ quality of life, in patients with incident MD and VN. (Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2019 Category: Neurology Source Type: research

Correction to: A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features
The author would like to correct the errors in the publication of the original article. The corrected details are given below for your reading. (Source: Journal of Neurology)
Source: Journal of Neurology - April 8, 2019 Category: Neurology Source Type: research

Amyloid PETs are commonly negative in suspected Alzheimer ’s disease with an increase in CSF phosphorylated-tau protein concentration but an Aβ42 concentration in the very high range: a prospective study
ConclusionsIn mild neurocognitive disorders patients with suspected AD and showing an increase in CSF P-tau protein level, amyloid PETs are commonly negative, when A ß42 concentration is in the very high range. In such case, AD diagnosis based on biomarkers can be ruled out with reasonable certainty, without the need for additional CSF second-line assays or results from amyloid PET. (Source: Journal of Neurology)
Source: Journal of Neurology - April 7, 2019 Category: Neurology Source Type: research

Diagnosis strategy and Yacovino maneuver for anterior canal-benign paroxysmal positional vertigo
ConclusionsThe effectiveness of the Yacovino maneuver, the follow-up outcome, the presence of typical BPPV in other canals, and the occurrence of canal conversions contribute to AC-BPPV diagnosis. The Yacovino maneuver was found to be more effective in AC-BPPV patients with canalolithiasis than in those with cupulolithiasis. (Source: Journal of Neurology)
Source: Journal of Neurology - April 7, 2019 Category: Neurology Source Type: research

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
AbstractLimb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures and/or hyperlaxity of distal finger joints. LGMD-like phenotype of collagenopathy has only rarely been described and as reported is usually of childhood onset. We identified a Finnish family withCOL6A2-related LGMD with autosomal dominant inheritance and very late onset at 40 –60 years of age. Since the mutatio...
Source: Journal of Neurology - April 7, 2019 Category: Neurology Source Type: research

15-White Dots APP-Coo-Test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias
ConclusionsWe have concluded that 15-WDACT is an easy, fast and reliable tool to assess the severity of the upper limb ataxia in patients with CA. (Source: Journal of Neurology)
Source: Journal of Neurology - April 5, 2019 Category: Neurology Source Type: research

Antecedent infections in Fisher syndrome: sources of variation in clinical characteristics
AbstractThe clinical features of Guillain –Barré syndrome (GBS) are highly variable, according to the type of antecedent infection. Although a major GBS phenotype, Fisher syndrome (FS), has been shown to be preceded by infections similar to those preceding GBS, whether or not the clinical features in FS also vary according to antecedent infection remains unclarified. Frequent antecedent infections among this study of 70 FS patients includedHaemophilus influenzae [n = 15 (21%)],Campylobacter jejuni [n = 10 (14%)], and cytomegalovirus (CMV) [n = 6 (8.6%)]. Compared with ...
Source: Journal of Neurology - April 5, 2019 Category: Neurology Source Type: research

Obituary for Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn
(Source: Journal of Neurology)
Source: Journal of Neurology - April 4, 2019 Category: Neurology Source Type: research

Mapping the neuroanatomy of functional decline in Alzheimer ’s disease from basic to advanced activities of daily living
ConclusionsThe association between ADL domains and neurodegeneration in AD follows a traceable neuropathological pathway which involves different neural networks. This the first evidence of ADL phenotypes in AD characterised by specific patterns of functional decline and well-defined neuropathological changes. The identification of such phenotypes can yield functional biomarkers for dementias such as AD. (Source: Journal of Neurology)
Source: Journal of Neurology - April 3, 2019 Category: Neurology Source Type: research

Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study
ConclusionsIn our study, about 30% of ALS patients showed PK signs. Neuroimaging data indicate that PK signs are due to the involvement of brain circuitries other than classical nigrostriatal ones, strengthening the hypothesis of ALS as a complex multisystem disease. (Source: Journal of Neurology)
Source: Journal of Neurology - April 3, 2019 Category: Neurology Source Type: research

Livedo racemosa generalisata: an anthological vision through Vlad ímir Lébedev painting
(Source: Journal of Neurology)
Source: Journal of Neurology - April 3, 2019 Category: Neurology Source Type: research

Serum and CSF neurofilament light chain levels in antibody-mediated encephalitis
AbstractCirculating and cerebrospinal fluid (CSF) neurofilament light chain (NfL) levels represent a reliable indicator of disease activity and axonal damage in different neuroinflammatory conditions. Recently, high CSF NfL levels have been detected in active autoimmune encephalitis, as opposed to significant lower levels after clinical improvement. The aim of the present study was to evaluate serum and CSF NfL concentration in patients with autoimmune encephalitis and to analyse the association between NfL levels and clinical, MRI, and CSF data. We retrospectively included 25 patients with neurological syndromes associate...
Source: Journal of Neurology - April 2, 2019 Category: Neurology Source Type: research

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Within 7  days of therapy with spironolactone, potassium and physical therapy, muscle strength almost completely normalized, a normal pennate pattern appeared and the edema was markedly reduced. She learned to walk without aid and to do sports and has continued to do so for 11 years until now. Over the yea rs, we tested s...
Source: Journal of Neurology - March 31, 2019 Category: Neurology Source Type: research

An update on advances in magnetic resonance imaging of multiple system atrophy
AbstractIn this review, we describe how different neuroimaging tools have been used to identify novel MSA biomarkers, highlighting their advantages and limitations. First, we describe the main structural MRI changes frequently associated with MSA including the ‘hot cross-bun’ and ‘putaminal rim’ signs as well as putaminal, pontine, and middle cerebellar peduncle (MCP) atrophy. We discuss the sensitivity and specificity of different supra- and infratentorial changes in differentiating MSA from other disorders, highlighting those that can improve di agnostic accuracy, including the MCP width and MCP/s...
Source: Journal of Neurology - March 16, 2019 Category: Neurology Source Type: research

Effect of levodopa on handwriting tasks of different complexity in Parkinson ’s disease: a kinematic study
This study investigated the effect of levodopa on the kinematics of writing. Twenty-four patients with PD of less than 10 years duration and 25 age-matched controls were recruited. A pra ctically definedoff state method was used to assess the levodopa motor response, measured on the Unified Parkinson ’s Disease Rating Scale Part III. The kinematic features for six handwriting tasks involving different levels of complexity were recorded from PD patients in off and on states and from the control group. Levodopa is effective for simple writing activities involving repetition of letters, denoting improved fine ...
Source: Journal of Neurology - March 14, 2019 Category: Neurology Source Type: research

Autoimmune encephalitis: frequency and prognosis
(Source: Journal of Neurology)
Source: Journal of Neurology - March 14, 2019 Category: Neurology Source Type: research

Congenital myopathies are mainly associated with a mild cardiac phenotype
ConclusionCongenital myopathies are generally associated with a mild cardiac phenotype. Our findings substantiate the literature and indicate that, except for patients with specific genotypes, such asMYH7 andTTN mutations, repeated cardiac assessments can be minimized, given a normal initial cardiac screening at time of diagnosis. (Source: Journal of Neurology)
Source: Journal of Neurology - March 13, 2019 Category: Neurology Source Type: research

Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients
ConclusionsCompared with Asian data, cerebral hemorrhages are infrequent and female predominance is accentuated among European Caucasians. Some former unknown rare features like associated livedo racemosa, dysgenesis of corpus callosum and associated syncope have been discovered systematically for the first time in this huge European Caucasian cohort. (Source: Journal of Neurology)
Source: Journal of Neurology - March 12, 2019 Category: Neurology Source Type: research

Prognostic significance of body weight variation after diagnosis in ALS: a single-centre prospective cohort study
AbstractBackgroundBody weight reduction after disease onset is an independent predictor of survival in amyotrophic lateral sclerosis (ALS), but significance of weight variation after diagnosis remains to be established.ObjectiveTo investigate weight variation after diagnosis and its prognostic significance in patients with ALS as a prospective cohort study.MethodsSeventy-nine patients with ALS were enrolled in this study. At the time of diagnosis and about 1  year later, we evaluated the following parameters: age, sex, onset age, onset region, body mass index (BMI) and premorbid BMI, forced vital capacity and the revi...
Source: Journal of Neurology - March 12, 2019 Category: Neurology Source Type: research