Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

abstract：:Internuclear ophthalmoplegia (INO) indicates a lesion involving the medial longitudinal fasciculus (MLF) that interconnects the abducens nucleus and medial rectus subnucleus of the oculomotor nuclear complex. In fact, rostral-caudal localization value of the INO is often limited except when it accompanies symptoms and...

journal_title：Journal of neurology

authors： Lee SU,Kim HJ,Park JJ,Kim JS

更新日期：2016-05-01 00:00:00

abstract：:Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study...

journal_title：Journal of neurology

authors： Pugliatti M,Parish LD,Cossu P,Leoni S,Ticca A,Saddi MV,Ortu E,Traccis S,Borghero G,Puddu R,Chiò A,Pirina P

更新日期：2013-02-01 00:00:00

abstract：:A man, aged 46, who had been taking Clioquinol in high doses for a long period, developed a characteristic neurological syndrome of subacute myelo-optic neuropathy rather abruptly. Electron microscopical examination of the muscle biopsy, obtained five months after the onset of the disease, revealed severe degenerative...

journal_title：Journal of neurology

authors： Otte G,de Coster W,Thiery E,de Reuck J,vander Eecken H

更新日期：1977-05-13 00:00:00

abstract：:Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main features are early onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The presence of choreoathetosis or dystonia in some patients sug...

journal_title：Journal of neurology

authors： Salvatore E,Varrone A,Criscuolo C,Mancini P,Sansone V,Strisciuglio C,Cicala D,Scarano V,Salvatore M,Pappatà S,De Michele G,Filla A

更新日期：2008-01-01 00:00:00

abstract：:The frequency of malignant diseases among 1866 living and 340 deceased multiple sclerosis (MS) patients was investigated in Finland. The study revealed a low prevalence (0.64%) and mortality (0.07%) rate of cancer among MS patients. The difference between MS patients and general population was significant. The highest...

journal_title：Journal of neurology

authors： Palo J,Duchesne J,Wikström J

更新日期：1977-10-07 00:00:00

abstract：:Although numerous clinical, laboratory, and pharmacological variables have been reported as significant risk factors for critical illness polyneuromyopathy (CIPM), there is still no consensus on the aetiology of this condition. Objectives of the study were to assess the clinical and electrophysiological incidence and ...

journal_title：Journal of neurology

authors： Bednarík J,Vondracek P,Dusek L,Moravcova E,Cundrle I

更新日期：2005-03-01 00:00:00

abstract：:Early identification of cardiogenic vertigo (CV) is necessary to prevent serious complications of cardiovascular diseases. However, the literature is limited to case reports without detailed clinical features or diagnostic criteria. The aim of this study was to define characteristics of CV and propose diagnostic crite...

journal_title：Journal of neurology

authors： Kim HA,Ahn J,Park HS,Lee SM,Choi SY,Oh EH,Choi JH,Kim JS,Choi KD

更新日期：2020-10-06 00:00:00

abstract：:Recent studies have shown that cerebrospinal fluid (CSF) levels of α-synuclein (α-syn) are highly elevated in patients with Creutzfeldt-Jakob disease (CJD) compared to controls. However, the diagnostic value of CSF α-syn in CJD has not been established. To confirm whether CSF α-syn is increased in CJD and is a useful ...

journal_title：Journal of neurology

authors： Kasai T,Tokuda T,Ishii R,Ishigami N,Tsuboi Y,Nakagawa M,Mizuno T,El-Agnaf OM

更新日期：2014-06-01 00:00:00

abstract：:Neurological manifestations in pandemics frequently cause short and long-term consequences which are frequently overlooked. Despite advances in the treatment of infectious diseases, nervous system involvement remains a challenge, with limited treatments often available. The under-recognition of neurological manifestat...

journal_title：Journal of neurology

authors： Valerio F,Whitehouse DP,Menon DK,Newcombe VFJ

更新日期：2020-10-26 00:00:00

abstract：BACKGROUND AND PURPOSE:Current demographic changes indicate that more people will be care-dependent due to increasing life expectancy. Little is known about impact of preexisting dependency on stroke outcome after endovascular treatment (EVT). METHODS:We compared prospectively collected baseline and outcome data of pr...

journal_title：Journal of neurology

authors： Oesch L,Arnold M,Bernasconi C,Kaesmacher J,Fischer U,Mosimann PJ,Jung S,Meinel T,Goeldlin M,Heldner M,Volbers B,Gralla J,Sarikaya H

更新日期：2020-08-31 00:00:00

abstract：:Six patients with congenital myotonia and 4 patients with myotonic dystrophy have been examined clinically before and after the administration of N-propyl-ajmalin, an alkaloid frequently used as a cardiac antiarrhythmic drug. All patients but one reported a good to moderate improvement of their myotonic muscle stiffne...

journal_title：Journal of neurology

authors： Birnberger KL,Rüdel R,Struppler A

更新日期：1975-09-01 00:00:00

abstract：:Neuropsychological deficits and the relationship to brain pathology were examined in 13 primary progressive (PP) and 12 secondary progressive (SP) multiple sclerosis patients with a similar duration of the progressive phase and comparable physical disability. A battery of neuropsychological tests to assess attention, ...

journal_title：Journal of neurology

authors： Foong J,Rozewicz L,Chong WK,Thompson AJ,Miller DH,Ron MA

更新日期：2000-02-01 00:00:00

abstract：:Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...

journal_title：Journal of neurology

authors： Filla A,De Michele G,Cavalcanti F,Santorelli F,Santoro L,Campanella G

更新日期：1991-06-01 00:00:00

abstract：:The aim of this study was to analyze the pattern of magnetic resonance diffusion-weighted imaging (DWI) findings in status epilepticus in terms of clinical characteristics. Participants comprised 106 patients with status epilepticus who were admitted to our hospital and underwent DWI. Forty-five patients (42.5 %) show...

journal_title：Journal of neurology

authors： Nakae Y,Kudo Y,Yamamoto R,Dobashi Y,Kawabata Y,Ikeda S,Yokoyama M,Higashiyama Y,Doi H,Johkura K,Tanaka F

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:Trans-active response DNA-binding protein of 43 kDa (TDP-43) can be detected in up to 63% of autopsy-confirmed Lewy body disease (LBD) cases. It is unclear whether TDP-43 is associated with a decreased likelihood of a clinical diagnosis of probable dementia with Lewy bodies (pDLB) during life. METHODS:In an...

journal_title：Journal of neurology

authors： Buciuc M,Whitwell JL,Boeve BF,Ferman TJ,Graff-Radford J,Savica R,Kantarci K,Fields JA,Knopman DS,Petersen RC,Parisi JE,Murray ME,Dickson DW,Josephs KA

更新日期：2020-05-01 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：BACKGROUND:Late-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes remain unclear. METHODS:A systematic literature ...

journal_title：Journal of neurology

authors： Berger KI,Kanters S,Jansen JP,Stewart A,Sparks S,Haack KA,Bolzani A,Siliman G,Hamed A

更新日期：2019-09-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：:Evaluating freezing of gait (FOG) and quantifying its severity in patients with Parkinson's disease (PD) is challenging; objective assessment is not sufficiently established. We aimed to improve the ability to objectively evaluate FOG severity by investigating the value of measuring the duration of the test and its co...

journal_title：Journal of neurology

authors： Herman T,Dagan M,Shema-Shiratzky S,Reches T,Brozgol M,Giladi N,Manor B,Hausdorff JM

更新日期：2020-09-01 00:00:00

abstract：:Out of 72 patients treated for Borrelia burgdorferi meningopolyradiculoneuritis facial palsies occurred in 22 (12 unilateral, 10 bilateral). Eleven of the 32 pareses were initially complete. By the follow-up examination patients had recovered well with slight sequelae in 22% without cosmetically disfiguring pareses or...

journal_title：Journal of neurology

authors： Angerer M,Pfadenhauer K,Stöhr M

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Tumefactive demyelinating lesions of the central nervous system can be the initial presentation in various pathological entities [multiple sclerosis (the most common), Balo's concentric sclerosis, Schilder's disease and acute disseminated encephalomyelitis] with overlapping clinical presentation. The aim of ...

journal_title：Journal of neurology

authors： Balloy G,Pelletier J,Suchet L,Lebrun C,Cohen M,Vermersch P,Zephir H,Duhin E,Gout O,Deschamps R,Le Page E,Edan G,Labauge P,Carra-Dallieres C,Rumbach L,Berger E,Lejeune P,Devos P,N'Kendjuo JB,Coustans M,Auffray-Calv

更新日期：2018-10-01 00:00:00

abstract：:Several studies have reported infection as a possible risk factor for cervical artery dissection (CAD). We retrospectively analyzed several inflammatory parameters of CAD patients with the aim of detecting differences between spontaneous (n = 25) and traumatic (n = 18) CAD. In this case-control study, we observed sign...

journal_title：Journal of neurology

authors： Forster K,Poppert H,Conrad B,Sander D

更新日期：2006-06-01 00:00:00

abstract：:Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has been the cause of sudden death. We examined nine CTX patients to...

journal_title：Journal of neurology

authors： Dotti MT,Mondillo S,Plewnia K,Agricola E,Federico A

更新日期：1998-11-01 00:00:00

abstract：BACKGROUND:Despite advances in the field, diagnosis and management of the wide spectrum of neurological events post allogeneic hematopoietic cell transplantation (alloHCT) remain challenging. Therefore, we investigated their incidence, diagnosis, management and long-term prognosis in alloHCT recipients. METHODS:We ret...

journal_title：Journal of neurology

authors： Sakellari I,Gavriilaki E,Papagiannopoulos S,Gavriilaki M,Batsis I,Mallouri D,Vardi A,Constantinou V,Masmanidou M,Yannaki E,Smias C,Geroukis T,Kazis D,Kimiskidis V,Anagnostopoulos A

更新日期：2019-08-01 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：:Oxidative stress is involved in the pathogenesis of multiple system atrophy (MSA). Uric acid has an antioxidative effect. Our aim is to clarify the correlations between serum uric acid and MSA in Chinese population. A total of 234 patients with probable MSA and 240 age- and gender- matched healthy controls were includ...

journal_title：Journal of neurology

authors： Cao B,Guo X,Chen K,Song W,Huang R,Wei QQ,Zhao B,Shang HF

更新日期：2013-10-01 00:00:00

abstract：:During recent years, evidence has come up that bipedal locomotion is based on a quadrupedal limb coordination. A task-dependent neuronal coupling of upper and lower limbs allows one to involve the arms during gait but to uncouple this connection during voluntarily guided arm/hand movements. Hence, despite the evolutio...

journal_title：Journal of neurology

authors： Dietz V

更新日期：2011-08-01 00:00:00

abstract：:Long-term treatment studies with any antiparkinsonian drug are rather limited. Especially, double-blind, randomized and multicenter studies do not exist except for some rare exceptions. Nonetheless, such studies are mandatory to prove certain therapy regimens. This overview reports on the comparison between dopamine a...

journal_title：Journal of neurology

authors： Reichmann H

更新日期：2000-09-01 00:00:00

abstract：:We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares severa...

journal_title：Journal of neurology

authors： Karlinger K,Tárnoki ÁD,Tárnoki DL,Polvi A,Lehesjoki AE,Kelemen A,Szegedi L,Turányi E,Kamondi A,Szűcs A

更新日期：2014-10-01 00:00:00

abstract：:Autonomic dysfunction is frequently observed in patients with multiple sclerosis (MS), but clinical studies disagree on the frequency and type of abnormalities in autonomic function tests. Orthostatic dizziness (OD) has been reported in up to 49% of patients, but the pathophysiological mechanisms are poorly understood...

journal_title：Journal of neurology

authors： Flachenecker P,Wolf A,Krauser M,Hartung HP,Reiners K

更新日期：1999-07-01 00:00:00