Journal of Neurology

Takashi Tsuboi, Joshua K Wong, Leonardo Almeida, Christopher W Hess, Aparna Wagle Shukla, Kelly D Foote, Michael S Okun, Adolfo Ramirez-Zamora
OBJECTIVE: To analyze deep brain stimulation (DBS) outcomes in patients with cervical dystonia (CD), the relationships between motor and disability/pain outcomes, and the differences in outcomes between globus pallidus internus (GPi) and subthalamic nucleus (STN) DBS, and to identify potential outcome predictors. METHODS: A systematic literature search identified individual patient data of CD patients who underwent DBS and whose outcomes were assessed with the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS)...
January 14, 2020: Journal of Neurology
G Carré, J L Dietemann, O Gebus, S Montaut, O Lagha-Boukbiza, T Wirth, S Kremer, I J Namer, M Anheim, C Tranchant
AIM: The second consensus statement for the diagnosis of multiple system atrophy type cerebellar (MSA-C) includes pons and middle cerebellar peduncle (MCP) atrophy as MRI features. However, other MRI abnormalities such as MCP hyperintensity, hot cross bun sign (HCB), putaminal hypointensity and hyperintense putaminal rim have been described. OBJECTIVES: To evaluate, in patients with sporadic late-onset cerebellar ataxia (SLOCA), the discriminative value of several MRI features for the diagnosis of MSA-C, to follow their evolution during the course of MSA-C, and to search for correlations between these MRI features and clinical signs...
January 14, 2020: Journal of Neurology
Javier Riancho, David Castanedo-Vázquez, Francisco Gil-Bea, Olga Tapia, Jana Arozamena, Carlos Durán-Vían, María José Sedano, Maria Teresa Berciano, Adolfo Lopez de Munain, Miguel Lafarga
BACKGROUND: Dermic fibroblasts have been proposed as a potential genetic-ALS cellular model. This study aimed to explore whether dermic fibroblasts from patients with sporadic-ALS (sALS) recapitulate alterations typical of ALS motor neurons and exhibit abnormal DNA-damage response. METHODS: Dermic fibroblasts were obtained from eight sALS patients and four control subjects. Cellular characterization included proliferation rate analysis, cytoarchitecture studies and confocal immunofluorescence assessment for TDP-43...
January 14, 2020: Journal of Neurology
Weihe Zhang, Lei Cui, Yeqiong Zhang, Wei Wang, Renbin Wang, Zunjing Liu, Dantao Peng, Yujuan Jiao, Jinsong Jiao
OBJECTIVE: To clarify the existence of monophasic neuromyelitis optica spectrum disorders (NMOSD) and to identify predictive factors of long-term relapse-free form. METHODS: We retrospectively analyzed 289 Chinese patients with NMOSD. Selected subjects were divided into three groups based on the time interval between disease onset and the first relapse, if any. Clinical and imaging data were acquired from each patient's medical record and evaluated as predictive factors for NMOSD...
January 13, 2020: Journal of Neurology
Edgar Carnero Contentti, Vanessa Daccach Marques, Ibis Soto de Castillo, Verónica Tkachuk, Bustos Ariel, Maria C Castillo, Edgardo Cristiano, Gabriel Braga Diégues Serva, Antonio Carlos Dos Santos, Ana Mariel Finkelsteyn, Pablo A López, Liliana Patrucco, Omaira Molina, Juan Pablo Pettinicchi, Vanesa Toneguzzo, Alejandro Caride, Juan Ignacio Rojas
BACKGROUND: We aimed to assess the clinical, paraclinical, imaging and prognostic features of patients with late-onset neuromyelitis optica spectrum disorder (LO-NMOSD; ≥ 50 years at disease onset) LO-NMOSD, compared with early onset-NMOSD (EO-NMOSD, ≤ 49 years at disease onset), in Latin American (LATAM). METHODS: We retrospectively reviewed the medical records of patients with NMOSD, as defined using the 2015 validated diagnostic criteria. We included patients from Argentina, Brazil and Venezuela...
January 13, 2020: Journal of Neurology
Vrutangkumar V Shah, James McNames, Martina Mancini, Patricia Carlson-Kuhta, Rebecca I Spain, John G Nutt, Mahmoud El-Gohary, Carolin Curtze, Fay B Horak
Clinical trials need to specify which specific gait characteristics to monitor as mobility measures for each neurological disorder. As a first step, this study aimed to investigate a set of measures from daily-life monitoring that best discriminate mobility between people with multiple sclerosis (MS) and age-matched healthy control subjects (MS-Ctl) and between people with Parkinson's disease (PD) and age-matched healthy control subjects (PD-Ctl). Further, we investigated how these discriminative measures relate to the disease severity of MS or PD...
January 11, 2020: Journal of Neurology
S F Green, P Nguyen, K Kaalund-Hansen, S Rajakulendran, Elaine Murphy
With the rising demand for ketogenic diet therapy in adult epilepsy, there is a need for research describing the real-life effectiveness, retention, and safety of relevant services. In this 1-year prospective cohort study we present outcomes of the first 100 referrals for modified ketogenic diet (MKD) at the UK's largest tertiary-care epilepsy centre, where patients received dietetic review up to twice per week. Of the first 100 referrals, 42 (31 females, 11 males; mean age 36.8 [SD ± 11.4 years]) commenced MKD, having used a mean of 4 (SD ± 3) previous antiepileptic drugs...
January 10, 2020: Journal of Neurology
Kang Min Park, Kyoo Ho Cho, Ho-Joon Lee, Kyoung Heo, Byung In Lee, Sung Eun Kim
OBJECTIVE: Growing evidence has suggested that epilepsy is a disease with alterations in brain connectivity. The aim of this study was to investigate whether the changes in brain connectivity can predict the response to an antiepileptic drug (AED) in patients with a newly diagnosed focal epilepsy of unknown etiology. METHODS: This observational study was independently performed at two tertiary hospitals (Group A and B). Thirty-eight patients with newly diagnosed focal epilepsy of unknown etiology were enrolled in Group A and 46 patients in Group B...
January 10, 2020: Journal of Neurology
David J Lewis-Smith, Noham Wolpe, Boyd C P Ghosh, James B Rowe
Alien limb refers to movements that seem purposeful but are independent of patients' reported intentions. Alien limb often co-occurs with apraxia in the corticobasal syndrome, and anatomical and phenomenological comparisons have led to the suggestion that alien limb and apraxia may be causally related as failures of goal-directed movements. Here, we characterised the nature of alien limb symptoms in patients with the corticobasal syndrome (n = 30) and their relationship to limb apraxia. Twenty-five patients with progressive supranuclear palsy Richardson syndrome served as a disease control group...
January 9, 2020: Journal of Neurology
Lili Kokoti, Konstantina Drellia, Dimitrios Papadopoulos, Dimos D Mitsikostas
High placebo and low nocebo phenomena mirror high positive expectations for a novel treatment, among other reasons. In a meta-analysis aimed to identify placebo and nocebo phenomena in the placebo-controlled randomized trials (RCTs) with the monoclonal antibodies targeting the calcitonin gene-related peptide pathway (anti-CGRP mAbs) all the placebo-treated patients were pooled and compared with the placebo-treated patients in RCTs with topiramate and onabotulinum toxin A (OBTA). In episodic migraine (EM), the proportion of placebo-treated patients who achieved the 50% responder rate (placebo) was 32...
January 9, 2020: Journal of Neurology
T H Massey, N P Robertson
No abstract text is available yet for this article.
January 7, 2020: Journal of Neurology
Matthew Boyko, Ka Loong Kelvin Au, Colin Casault, Paula de Robles, Gerald Pfeffer
BACKGROUND: Contactin-associated protein-like 2 (CASPR2) autoantibody disease has a variable clinical phenotype. We present a case report and performed a systematic review of the literature to summarize: (1) the clinical phenotype of patients with CASPR2 antibodies, (2) the findings in neurological investigations, and (3) the associated neuroimaging findings. METHODS: A chart review was performed for the case report. A systematic review of the medical literature was performed from first available to June 13, 2018...
January 7, 2020: Journal of Neurology
David Adams, Yukio Ando, João Melo Beirão, Teresa Coelho, Morie A Gertz, Julian D Gillmore, Philip N Hawkins, Isabelle Lousada, Ole B Suhr, Giampaolo Merlini
Amyloid transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive, debilitating, systemic disease wherein transthyretin protein misfolds to form amyloid, which is deposited in the endoneurium. ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. It is critical to identify and diagnose the disease earlier because treatments are available to help slow the progression of neuropathy...
January 6, 2020: Journal of Neurology
Vladana Marković, Iva Stanković, Igor Petrović, Tanja Stojković, Nataša Dragašević-Mišković, Saša Radovanović, Marina Svetel, Elka Stefanova, Vladimir Kostić
INTRODUCTION: Impulsive compulsive behaviors (ICBs) in Parkinson's disease (PD) are debilitating disorders of repetitive, excessive, and compulsive nature affecting up to one third of PD patients. Objectives are to address clinical, psychiatric, and cognitive characteristics of ICBs and to define risk factors in PD patients in the initial motor stage, followed up for 5 years. METHODS: We analyzed 106 consecutive PD outpatients at Hoehn and Yahr disease stage 1 and 125 healthy controls...
January 4, 2020: Journal of Neurology
Elisabetta Sarasso, Federica Agosta, Noemi Piramide, Francesca Bianchi, Carla Butera, Roberto Gatti, Stefano Amadio, Ubaldo Del Carro, Massimo Filippi
Sensory trick may relieve dystonic symptoms in patients with idiopathic cervical dystonia (CD). We investigated the patterns of brain functional MRI (fMRI) during resting state, sensory trick simulation and sensory trick imagination in CD patients both with and without an effective sensory trick. We recruited 17 CD patients and 15 healthy controls. Nine patients (CD-trick) had an effective sensory trick, while 8 patients (CD-no-trick) did not. Cervical range of motion validated instrument assessed dystonic posture and sensory trick effect...
January 2, 2020: Journal of Neurology
Noemi Piramide, Federica Agosta, Elisabetta Sarasso, Elisa Canu, Maria Antonietta Volontè, Massimo Filippi
In this study, we assessed brain functional MRI (fMRI) activity during a foot movement task in Parkinson's disease patients with (PD-FoG) and without freezing of gait (PD-noFoG). Twenty-seven PD patients (17 PD-FoG) and 18 healthy controls (HC) were recruited. PD-FoG cases were divided into nine with mild and eight with moderate FoG according to the FoG questionnaire. Patients underwent motor and neuropsychological evaluations. Both patients and controls performed an fMRI task consisting of alternate dorsal/plantar foot flexion movements according to an auditory stimulus of 0...
January 2, 2020: Journal of Neurology
Elisabetta Indelicato, Alessandra Fanciulli, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Jean-Pierre Ndayisaba, Roberta Granata, Gregor Wenning, Sylvia Boesch
BACKGROUND: Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (MSA-C) and SAOA (sporadic adult-onset ataxia). The presence of severe cardiovascular autonomic failure reliably distinguishes MSA-C from other ataxias, but it may appear only late in the disease course. OBJECTIVE: To evaluate the diagnostic yield of cardiovascular autonomic function tests in the work-up of cerebellar ataxia...
December 31, 2019: Journal of Neurology
Arife Çimen Atalar, Ebru Nur Vanlı-Yavuz, Ebru Yılmaz, Nerses Bebek, Betül Baykan
The original version of this article unfortunately contained a mistake.
December 26, 2019: Journal of Neurology
Grace Wei, Muireann Irish, John R Hodges, Olivier Piguet, Fiona Kumfor
Apathy is one of the most prevalent and disabling non-cognitive symptoms of dementia. This loss of motivation and pervasive decline in goal-directed behaviour represents a core diagnostic feature of behavioural-variant frontotemporal dementia (bvFTD) and is also common in Alzheimer's disease (AD). However, despite growing recognition of a multidimensional model, apathy has typically been examined as a unitary symptom. Here, we employed a cross-sectional design to characterise the multidimensional nature of apathy across syndromes and disease course...
December 23, 2019: Journal of Neurology
Marco Pasi, Eva Rocha, Wesley Samore, Matthew P Frosch, Anand Viswanathan, Aneesh B Singhal
INTRODUCTION: The prevalence of modifiable vascular risk factors is increasing in young adults and may contribute to the growing frequency of stroke in this population. The neuropathology and end-organ damage profile of young adult stroke patients with clinically advanced atherosclerosis or arteriosclerosis has not been studied. METHODS: This retrospective study included patients aged 18-60 years admitted to our hospital from 1995 to 2017 with recurrent ischemic or hemorrhagic strokes, fatal stroke, or stroke associated with advanced small vessel disease (SVD) on brain MRI, who had no evidence for structural, genetic, inflammatory, or infectious etiology for stroke, and had adequate pathological materials available for analysis...
December 18, 2019: Journal of Neurology
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