Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.

abstract：OBJECTIVE:There exist controversial and discrepant results on the risk of spontaneous abortions and teratogenesis induced by interferon treatment in people with MS.Aim of this study is to evaluate risks of the administration of INFbeta related not only to the foetus, but also to children development up to 12-months dev...

journal_title：Journal of neurology

authors： Patti F,Cavallaro T,Lo Fermo S,Nicoletti A,Cimino V,Vecchio R,Laisa P,Zarbo R,Zappia M

更新日期：2008-08-01 00:00:00

abstract：:Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, t...

journal_title：Journal of neurology

authors： Bresolin N,Bet L,Moggio M,Meola G,Fortunato F,Comi G,Adobbati L,Geremia L,Pittalis S,Scarlato G

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:To investigate whether intracranial arachnoid cysts (AC) compromise visual attention and if so, whether surgical cyst decompression leads to improvement in visual attention performance. METHODS:The experiments were carried out on 27 patients with temporal (n=21) or frontal (n=6) AC, and 27 healthy control su...

journal_title：Journal of neurology

authors： Gundersen H,Helland CA,Raeder MB,Hugdahl K,Wester K

更新日期：2007-01-01 00:00:00

abstract：INTRODUCTION:The so called "neurodegenerative Langerhans cell histiocytosis" (ND-LCH) is a rare and severe complication of LCH presenting as a progressive cerebellar ataxia associated with pyramidal tract signs, and cognitive impairment. MRI is the gold standard to investigate CNS lesions of ND-LCH but little is known ...

journal_title：Journal of neurology

authors： Ribeiro MJ,Idbaih A,Thomas C,Remy P,Martin-Duverneuil N,Samson Y,Donadieu J,Hoang-Xuan K

更新日期：2008-04-01 00:00:00

abstract：:The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Wester...

journal_title：Journal of neurology

authors： Rosenbohm A,Peter RS,Erhardt S,Lulé D,Rothenbacher D,Ludolph AC,Nagel G,ALS Registry Study Group.

更新日期：2017-04-01 00:00:00

abstract：:Familial amyloid polyneuropathy (FAP) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (TTR) gene. We studied clinical, electrophysiological, histopathological, and genetic characteristics in 15 (13 late-onset and two early-onset) patients belonging to 14 familie...

journal_title：Journal of neurology

authors： Dohrn MF,Röcken C,De Bleecker JL,Martin JJ,Vorgerd M,Van den Bergh PY,Ferbert A,Hinderhofer K,Schröder JM,Weis J,Schulz JB,Claeys KG

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system. The treatment of MS has always been a focus of neurological research. To date, the US Food and Drug Administration has approved 15 medications for modifying the course of multiple sclerosis. In this study, we exami...

journal_title：Journal of neurology

authors： Li H,Hu F,Zhang Y,Li K

更新日期：2020-12-01 00:00:00

abstract：:Regional cerebral glucose metabolism (rCMRGlc) and dopamine D2 receptor binding were measured in a 31-year-old, severely affected, untreated patient with Wilson's disease of 3 years' duration using positron emission tomography and 18F-deoxyglucose and 18F-methylspiperone ([18F]MSP), respectively. There was a severe re...

journal_title：Journal of neurology

authors： Schlaug G,Hefter H,Nebeling B,Engelbrecht V,Weiss P,Stöcklin G,Seitz RJ

更新日期：1994-10-01 00:00:00

abstract：OBJECTIVE:To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington's disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers. METHODS:Sixteen HD gene carriers without overt clinical motor signs and 14 ...

journal_title：Journal of neurology

authors： Jurgens CK,van de Wiel L,van Es AC,Grimbergen YM,Witjes-Ané MN,van der Grond J,Middelkoop HA,Roos RA

更新日期：2008-11-01 00:00:00

abstract：:The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...

journal_title：Journal of neurology

authors： Haug BA,Dressler D,Prange HW

更新日期：1990-02-01 00:00:00

abstract：:Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an ...

journal_title：Journal of neurology

authors： Stevenson VL,Hardie RJ

更新日期：2001-02-01 00:00:00

abstract：:This observational study examined the outcome of two different therapeutic strategies in the treatment of chronic neuropathic pain by including pregabalin (PGB) as mono- or add-on therapy in one of two treatment options. Patients with a pain score of > or =4, refractory to usual care for neuropathic pain for at least ...

journal_title：Journal of neurology

authors： Lampl C,Schweiger C,Haider B,Lechner A

更新日期：2010-08-01 00:00:00

abstract：:Reduced level of consciousness is a common clinical finding in acutely sick patients. In the majority of cases a cause for the encephalopathy is readily identifiable,whilst in a minority the aetiology is more difficult to ascertain. Frequently the onset of encephalopathy is associated with, or follows, infection. The ...

journal_title：Journal of neurology

authors： Davies NW,Sharief MK,Howard RS

更新日期：2006-07-01 00:00:00

abstract：:Seventy-seven cases of the optic-spinal form of multiple sclerosis (OSMS) were collected from 6 institutes in 3 cities of Japan, and the clinical and MRI features were analyzed. Two-thirds of the OSMS patients had longitudinally extensive spinal cord MRI lesions (LESL), and had clinical features similar to those of re...

journal_title：Journal of neurology

authors： Nakashima I,Fukazawa T,Ota K,Nohara C,Warabi Y,Ohashi T,Miyazawa I,Fujihara K,Itoyama Y

更新日期：2007-04-01 00:00:00

abstract：OBJECTIVE:In order to define the predictors of prolonged survival available at the time of first examination we performed a historical cohort study of amyotrophis sclerosis (ALS) patients referred to our ALS Clinic over the last 20 years. METHODS:In a group of 1034 patients with the diagnosis of definite or probable A...

journal_title：Journal of neurology

authors： Czaplinski A,Yen AA,Appel SH

更新日期：2006-11-01 00:00:00

abstract：:Parvalbumin (a calcium-binding protein)-immunoreactive (PV-Ir) neurons in the cerebral cortex were examined in 20 postmortem brains obtained from elderly controls and patients with Pick's disease (PD). The type of PV-Ir neurons and their distribution in control and PD brains were similar. The number of PV-Ir neurons i...

journal_title：Journal of neurology

authors： Arai H,Noguchi I,Makino Y,Kosaka K,Heizmann CW,Iizuka R

更新日期：1991-07-01 00:00:00

abstract：:Migraine is a common and disabling nervous system disease with a significant genetic predisposition. The sex hormones play an important role in the pathogenesis of migraine. However, the conclusions of the previous genetic relation studies are conflicting. The aim of this study is to determine whether variants in gene...

journal_title：Journal of neurology

authors： An X,Fang J,Lin Q,Lu C,Ma Q,Qu H

更新日期：2017-01-01 00:00:00

abstract：OBJECTIVE:To assess the association of Medial Temporal lobe Atrophy (MTA) and White Matter Hyperintensities (WMHs) with gray matter perfusion in Mild Cognitive Impairment (MCI). METHODS:56 MCI patients (age = 69.3 +/- 7.0, 32 females) underwent brain MR scan and (99m)Tc ECD SPECT. We evaluated MTA according to Schelte...

journal_title：Journal of neurology

authors： Caroli A,Testa C,Geroldi C,Nobili F,Guerra UP,Bonetti M,Frisoni GB

更新日期：2007-08-01 00:00:00

abstract：:Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features...

journal_title：Journal of neurology

authors： No YJ,Zavanone C,Bielle F,Nguyen-Michel VH,Samson Y,Adam C,Navarro V,Dupont S

更新日期：2017-05-01 00:00:00

abstract：BACKGROUNDS:Wake-Up Stroke (WUS) patients are generally excluded from thrombolytic therapy (rTPA) due to the unknown time of stroke onset. This study aimed to investigate the effects of rTPA in WUS patients during every day clinical scenarios, by measuring ischemic lesion volume and functional outcomes compared to non-...

journal_title：Journal of neurology

authors： Furlanis G,Ajčević M,Buoite Stella A,Cillotto T,Caruso P,Ridolfi M,Cova MA,Naccarato M,Manganotti P

更新日期：2020-03-01 00:00:00

abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...

journal_title：Journal of neurology

authors： Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata A

更新日期：1985-01-01 00:00:00

abstract：:This study aimed at identifying gender-specific differences in stroke knowledge, stroke risk perception and the educational effects of a multimodal educational intervention. We performed computer-assisted telephone surveys among an average sample of 500 members of the general public (44.0% male, 56.0% female), before ...

journal_title：Journal of neurology

authors： Marx JJ,Klawitter B,Faldum A,Eicke BM,Haertle B,Dieterich M,Nedelmann M

更新日期：2010-03-01 00:00:00

abstract：:This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...

journal_title：Journal of neurology

authors： Yacovino DA,Hain TC,Gualtieri F

更新日期：2009-11-01 00:00:00

abstract：:Nerve conduction studies (NCS) and electromyography (EMG), often shortened to 'EMGs', are a useful adjunct to clinical examination of the peripheral nervous system and striated skeletal muscle. NCS provide an efficient and rapid method of quantifying nerve conduction velocity (CV) and the amplitude of both sensory ner...

journal_title：Journal of neurology

authors： Kane NM,Oware A

更新日期：2012-07-01 00:00:00

abstract：:Functional changes in the organisation of neuronal circuitries are generally used to explain parkinsonian motor symptoms and levodopa-induced dyskinesias. Based on information from histology and neurophysiological microrecordings of specific basal ganglia nuclei, the most widely accepted scheme is based on a central l...

journal_title：Journal of neurology

authors： Delwaide PJ,Pepin JL,De Pasqua V,de Noordhout AM

更新日期：2000-04-01 00:00:00

abstract：:Neuropsychological assessment is one of the main fields of activity of clinical neuropsychologists. Goals of this assessment are verification and description of cognitive and affective impairments as the consequence of brain damage. Included are examinations of basal and higher sensory functions, the intellectual prof...

journal_title：Journal of neurology

authors： Sturm W

更新日期：2007-05-01 00:00:00

abstract：:An immunohistochemical study using the mirror-image technique was performed in order to establish whether amyloid P component is involved in the mechanism of deposition of amyloid fibrils in senile plaques (SPs) in Alzheimer-type dementia (ATD). Ninety percent of beta/A4 protein-immunoreactive SPs were also stained by...

journal_title：Journal of neurology

authors： Kimura M,Arai H,Takahashi T,Iwamoto N

更新日期：1994-01-01 00:00:00

abstract：:Secondary worsening of stroke symptoms is described in 13-37% of stroke patients, but the exact mechanism of this phenomenon remains unclear. The aim of this study is to find prognostic variables in correlation to secondary worsening of stroke symptoms in patients with lacunar or cortical strokes. In this prospective ...

journal_title：Journal of neurology

authors： Schweitzer JR,Koehler PJ,Voogd AC,Franke CL

更新日期：2010-09-01 00:00:00

abstract：:To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (pos...

journal_title：Journal of neurology

authors： Scagnolari C,Duda P,Bagnato F,De Vito G,Alberelli A,Lavolpe V,Girardi E,Durastanti V,Trojano M,Kappos L,Antonelli G

更新日期：2007-05-01 00:00:00

abstract：:We report the effects of intravenous gamma-globulin (IVGG) in severe Guillain-Barré syndrome (GBS) in a small open study. Seven patients were given IVGG (0.4 g/kg/day) for 5 consecutive days. At the start of treatment all had progressing limb weakness and none could stand unaided. Within 24 h all but one patient start...

journal_title：Journal of neurology

authors： Jackson MC,Godwin-Austen RB,Whiteley AM

更新日期：1993-01-01 00:00:00