What do we know about the mechanism of action of disease-modifying treatments in MS?

abstract：OBJECTIVES:Over the past few decades, there has been an improvement in the rate of disability progression in multiple sclerosis (MS) patients, and most studies relate this evolvement to the introduction of disease-modifying therapies. However, several other factors have changed over this period, including access to MRI...

journal_title：Journal of neurology

authors： Simonsen CS,Flemmen HØ,Broch L,Brunborg C,Berg-Hansen P,Moen SM,Celius EG

更新日期：2020-10-22 00:00:00

abstract：:We report on a 14-year-old boy with congenital isolated hemifacial hyperplasia. Hemifacial hypertrophy most likely represents a minor form of congenital hemihypertrophy. MRI of the soft tissue is particularly suitable to support the diagnosis and reveal associated bony asymmetries. ...

journal_title：Journal of neurology

authors： Urban PP,Bruening R

更新日期：2009-09-01 00:00:00

abstract：:The primary cause of neurological syndromes with antibodies against glutamic acid decarboxylase 65 (GAD65-Ab) is unknown, but genetic predisposition may exist as it is suggested by the co-occurrence in patients and their relatives of other organ-specific autoimmune diseases, notably type 1 diabetes mellitus (T1DM), an...

journal_title：Journal of neurology

authors： Muñiz-Castrillo S,Ambati A,Dubois V,Vogrig A,Joubert B,Rogemond V,Picard G,Lin L,Fabien N,Mignot E,Honnorat J

更新日期：2020-07-01 00:00:00

abstract：:Eighty patients were studied by angiography within 6 h of an ischaemic stroke. Angiography was carried out with digital equipment and was usually limited to the vascular territory responsible for the neurological deficits. In 12 of 19 patients with internal carotid occlusion, the contralateral side was also studied. T...

journal_title：Journal of neurology

authors： Bozzao L,Fantozzi LM,Bastianello S,Bozzao A,Argentino C,Lenzi GL,Fieschi C

更新日期：1989-09-01 00:00:00

abstract：:We examined the morphology of spinal accessory motoneurons and immunoreactivity to neurotrophins, brain-derived neurotropic factor (BDNF) and neurotrophin (NT)-3, as well as the presence of reactive astrocytosis in 70 tiptoe walking Yoshimura (twy) mice that develop calcification at C1-C2 vertebral level compressing t...

journal_title：Journal of neurology

authors： Uchida K,Baba H,Maezawa Y,Furukawa S,Furusawa N,Imura S

更新日期：1998-12-01 00:00:00

abstract：:An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for th...

journal_title：Journal of neurology

authors： Bresolin N,Comi GP,Fortunato F,Meola G,Gallanti A,Tajana A,Velicogna M,Gonano EF,Ninfali P,Pifferi S

更新日期：1993-05-01 00:00:00

abstract：:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...

journal_title：Journal of neurology

authors： von Pein F,Välkkilä M,Schwarz R,Morcher M,Klima B,Grau A,Ala-Kokko L,Hausser I,Brandt T,Grond-Ginsbach C

更新日期：2002-07-01 00:00:00

abstract：:Neuroinflammation (microglial activation) and subclinical nigrostriatal dysfunction have been reported in subjects at risk of Parkinsonism. Eight non-manifesting carriers (NMCs) of LRRK2 G2019S mutation had 11C-PK11195 and 18F-DOPA PET to assess microglial activation and striatal dopamine system integrity, respectivel...

journal_title：Journal of neurology

authors： Gersel Stokholm M,Garrido A,Tolosa E,Serradell M,Iranzo A,Østergaard K,Borghammer P,Møller A,Parbo P,Stær K,Brooks DJ,Martí MJ,Pavese N

更新日期：2020-08-01 00:00:00

abstract：:Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...

journal_title：Journal of neurology

authors： Schwarz N,Hahn A,Bast T,Müller S,Löffler H,Maljevic S,Gaily E,Prehl I,Biskup S,Joensuu T,Lehesjoki AE,Neubauer BA,Lerche H,Hedrich UBS

更新日期：2016-02-01 00:00:00

abstract：:The seasonal occurrence of relapses was analysed retrospectively in a group of 53 patients with treated dermatomyositis (DM) or polymyositis (PM). In DM, the incidence of both myositic and cutaneous relapses was highest in summer whereas in the PM group relapses was more evenly distributed throughout the seasons but l...

journal_title：Journal of neurology

authors： Phillips BA,Zilko PJ,Garlepp MJ,Mastaglia FL

更新日期：2002-04-01 00:00:00

abstract：:A 23-year-old woman had progressive right hemiparesis followed by spontaneous clinical remission. The clinical profile and multifocal contrast-enhancing CT lesions in the periventricular region of the cerebrum favored the diagnosis of an acute demyelinating process. Serial examinations showed resolution of CT abnormal...

journal_title：Journal of neurology

authors： Kuroiwa Y,Nishimura Y,Kobayashi S,Mizoguchi K,Honda N

更新日期：1982-01-01 00:00:00

abstract：:Although awareness of non-motor symptoms in Parkinson's disease (PD) has recently increased, little is known about their recognition and treatment in routine clinical practice. We therefore applied non-motor rating scales for dementia, depression, anxiety and excessive daytime sleepiness to a community-ascertained coh...

journal_title：Journal of neurology

authors： Hu M,Cooper J,Beamish R,Jones E,Butterworth R,Catterall L,Ben-Shlomo Y

更新日期：2011-08-01 00:00:00

abstract：INTRODUCTION:Intracranial lipomas are rare, mostly congenital lesions. Sporadic case reports suggest an association with focal epilepsy. METHODS:All admissions to our epilepsy monitoring unit who had had brain MRI were reviewed for intracranial lipomas during 6 consecutive years. RESULTS:Five patients with intracrani...

journal_title：Journal of neurology

authors： Loddenkemper T,Morris HH 3rd,Diehl B,Lachhwani DK

更新日期：2006-05-01 00:00:00

abstract：BACKGROUND AND AIMS:Due to common pathophysiological findings of Alzheimer's disease (AD) with diabetes mellitus (DM), insulin has been suggested as a possible treatment of AD or mild cognitive impairment (MCI). A safe alternative of IV insulin is intranasal (IN) insulin. The aim of this systematic review is to investi...

journal_title：Journal of neurology

authors： Avgerinos KI,Kalaitzidis G,Malli A,Kalaitzoglou D,Myserlis PG,Lioutas VA

更新日期：2018-07-01 00:00:00

abstract：:Sera from 23 patients with acute Guillain Barré syndrome (GBS), 15 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and from 40 age-matched blood donors were analysed for antibodies to acidic glycosphingolipids from human brain and peripheral nerve. Antibodies to ganglioside LM1, the majo...

journal_title：Journal of neurology

authors： Fredman P,Vedeler CA,Nyland H,Aarli JA,Svennerholm L

更新日期：1991-04-01 00:00:00

abstract：:Recent reports suggest the possible beneficial effects of haemopoietic stem cell transplantation (HSCT) in autoimmune diseases such as multiple sclerosis (MS). The definition of the risk/benefit ratio for such a treatment is perceived as a major issue for the neurological community worldwide. The First Consensus Confe...

journal_title：Journal of neurology

authors： Comi G,Kappos L,Clanet M,Ebers G,Fassas A,Fazekas F,Filippi M,Hartung HP,Hertenstein B,Karussis D,Martino G,Tyndall A,van der Meché FG

更新日期：2000-05-01 00:00:00

abstract：BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that still lacks reliable diagnostic biomarkers. 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)...

journal_title：Journal of neurology

authors： Scarafino A,D'Errico E,Introna A,Fraddosio A,Distaso E,Tempesta I,Morea A,Mastronardi A,Leante R,Ruggieri M,Mastrapasqua M,Simone IL

更新日期：2018-10-01 00:00:00

abstract：:Spinocerebellar ataxia (SCA) type 7 is an autosomal dominant disorder characterized by neural loss, mainly in the cerebellum and regions of the brainstem and particularly the inferior olivary complex. This neurodegeneration disease is associated with expansion of unstable CAG repeats within the 5'-translated region of...

journal_title：Journal of neurology

authors： Hsieh M,Lin SJ,Chen JF,Lin HM,Hsiao KM,Li SY,Li C,Tsai CJ

更新日期：2000-08-01 00:00:00

abstract：:We aimed to assess the intrasubject reproducibility of a technology-based levodopa (LD) therapeutic monitoring protocol administered in supervised versus unsupervised conditions in patients with Parkinson's disease (PD). The study design was pilot, intrasubject, single center, open and prospective. Twenty patients wer...

journal_title：Journal of neurology

authors： Lopane G,Mellone S,Corzani M,Chiari L,Cortelli P,Calandra-Buonaura G,Contin M

更新日期：2018-06-01 00:00:00

abstract：:The follow-up of neurophysiological tests (brain-stem auditory evoked potentials; blink reflex; sensory, motor and visual evoked potentials) and CT was investigated in 21 patients with late-onset cerebellar ataxia (CA) or multiple system atrophy. The study included an initial investigation and a follow-up examination ...

journal_title：Journal of neurology

authors： Wessel K,Huss GP,Brückmann H,Kömpf D

更新日期：1993-01-01 00:00:00

abstract：:A retrospective study was performed to investigate seasonal variation in stroke incidence and to evaluate the hypothesis that cold might be a risk factor. Data were obtained from the central registry of the Hospital de S. João, Porto, Portugal, concerning 4048 patients consecutively admitted for cerebrovascular diseas...

journal_title：Journal of neurology

authors： Azevedo E,Ribeiro JA,Lopes F,Martins R,Barros H

更新日期：1995-03-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of pati...

journal_title：Journal of neurology

authors： Le Cam-Duchez V,Bagan-Triquenot A,Barbay V,Mihout B,Borg JY

更新日期：2008-10-01 00:00:00

abstract：:In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...

journal_title：Journal of neurology

authors： Doyle D

更新日期：1997-10-01 00:00:00

abstract：:Polymerase chain reaction (PCR) based automated high-resolution fragment analysis of rearranged immunoglobulin heavy-chain genes is a highly sensitive means for identifying clonal B-cell responses. We used this technique to distinguish polyclonal inflammatory from monoclonal neoplastic B-cell populations in the cerebr...

journal_title：Journal of neurology

authors： Wildemann B,Jansen O,Haas J,Vogt-Schaden ME,Storch-Hagenlocher B

更新日期：2001-02-01 00:00:00

abstract：:Diffusion tensor imaging (DTI) has become a useful tool for investigating early white matter (WM) abnormalities in motor neuron disease. Furthermore, fiber tracking packages that apply multi-tensorial algorithms, such as q-ball imaging (QBI), have been proposed as alternative approaches to overcome DTI limitations in ...

journal_title：Journal of neurology

authors： Caiazzo G,Corbo D,Trojsi F,Piccirillo G,Cirillo M,Monsurrò MR,Esposito F,Tedeschi G

更新日期：2014-01-01 00:00:00

abstract：:This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological...

journal_title：Journal of neurology

authors： d'Orsi G,Specchio LM,Apulian Study Group on Senile Myoclonic Epilepsy.

更新日期：2014-08-01 00:00:00

abstract：:Peripheral neuropathies have various causes, both infectious and non-infectious. When we think of "epidemics", we often refer to an infectious or even post-infectious origin. Nevertheless, the history of mankind is marked by episodes of epidemics of peripheral neuropathies of non-infectious nature, either of nutrition...

journal_title：Journal of neurology

authors： Mathis S,Soulages A,Vallat JM,Le Masson G

更新日期：2020-09-11 00:00:00

abstract：:Mal de debarquement (MdD) is a subjective perception of self-motion after exposure to passive motion, in most cases sea travel, hence the name. Mal de debarquement occurs quite frequently in otherwise healthy individuals for a short period of time (several hours). However, in some people symptoms remain for a longer p...

journal_title：Journal of neurology

authors： Van Ombergen A,Van Rompaey V,Maes LK,Van de Heyning PH,Wuyts FL

更新日期：2016-05-01 00:00:00

abstract：:Anti-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...

journal_title：Journal of neurology

authors： Ly LT,Kreye J,Jurek B,Leubner J,Scheibe F,Lemcke J,Wenke NK,Reincke SM,Prüss H

更新日期：2018-11-01 00:00:00

abstract：:The diagnosis and management of lesions of the brachial roots and of the brachial plexus is improved by appropriate investigation, both in acute and chronic disorders. The choice of investigation should be determined by the clinical problem. Since they are relatively non-invasive, electrophysiological investigations a...

journal_title：Journal of neurology

authors： Swash M

更新日期：1986-06-01 00:00:00