Late presentation of congenital muscular torticollis: a non-dystonic cause of torticollis.

abstract：:Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been ...

journal_title：Journal of neurology

authors： Brockmann K,Dechent P,Meins M,Haupt M,Sperner J,Stephani U,Frahm J,Hanefeld F

更新日期：2003-03-01 00:00:00

abstract：:Fifteen patients with Sneddon's syndrome presenting since 1979 were re-examined. After a neurological examination, an orienting test of mental ability as well as an electroencephalogram were performed in all patients. In 10 of the 15 patients computed tomography of the brain was performed, too. Preceding reports and t...

journal_title：Journal of neurology

authors： Weissenborn K,Lubach D,Schwabe C,Becker H

更新日期：1989-01-01 00:00:00

abstract：:The objective of this study was to investigate cognitive dysfunction in 24-60-year-old neuromyelitis optica (NMO) patients, demographically matched healthy subjects, and MS patients. We conducted a comprehensive literature review of the PubMed, Medline, EMBASE, CNKI, Wan Fang Date, Web of Science, and Cochrane Library...

journal_title：Journal of neurology

authors： Meng H,Xu J,Pan C,Cheng J,Hu Y,Hong Y,Shen Y,Dai H

更新日期：2017-08-01 00:00:00

abstract：:Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an importan...

journal_title：Journal of neurology

authors： Becker F,Schubert J,Striano P,Anttonen AK,Liukkonen E,Gaily E,Gerloff C,Müller S,Heußinger N,Kellinghaus C,Robbiano A,Polvi A,Zittel S,von Oertzen TJ,Rostasy K,Schöls L,Warner T,Münchau A,Lehesjoki AE,Zara F,Lerch

更新日期：2013-05-01 00:00:00

abstract：:Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...

journal_title：Journal of neurology

authors： Vallet A,Del Campo N,Hoogendijk EO,Lokossou A,Balédent O,Czosnyka Z,Balardy L,Payoux P,Swider P,Lorthois S,Schmidt E

更新日期：2020-05-01 00:00:00

abstract：:To define the incidence and type of neurological complications and associated factors, we reviewed 41 consecutive patients who had 45 procedures for liver transplantation. Encephalopathy occurred after 28 procedures (62%) with immediate onset and no significant recovery before death or re-transplantation in 11 (24%), ...

journal_title：Journal of neurology

authors： Ghaus N,Bohlega S,Rezeig M

更新日期：2001-12-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Parkinson's disease (PD) reduces independence and quality of life through deterioration of upper limb motor function. Transcranial direct current stimulation (tDCS) may offer an alternative, adjunctive therapy for PD. However, the efficacy of tDCS for upper limb motor rehabilitation in PD is unkn...

journal_title：Journal of neurology

authors： Simpson MW,Mak M

更新日期：2020-12-01 00:00:00

abstract：:The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify th...

journal_title：Journal of neurology

authors： Poisson A,Krack P,Thobois S,Loiraud C,Serra G,Vial C,Broussolle E

更新日期：2012-08-01 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：:Different physiological mechanisms of facilitation of latencies and amplitudes of magnetic motor evoked potentials (MEPs) were evaluated in a cohort of 140 healthy volunteers. The potentials were induced at the vertex and recorded at the abductor pollicis brevis. The aim of the present investigation was to compare phy...

journal_title：Journal of neurology

authors： Hufnagel A,Jaeger M,Elger CE

更新日期：1990-11-01 00:00:00

abstract：: ...

journal_title：Journal of neurology

authors： Robertson JA,Tallantyre EC

更新日期：2018-12-01 00:00:00

abstract：:Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dys...

journal_title：Journal of neurology

authors： Zierz S,Jahns G,Jerusalem F

更新日期：1989-02-01 00:00:00

abstract：:There is growing evidence that intravenous immunoglobulins (IVIG) are effective in some neuroimmunological disorders of childhood. This short review summarizes the evidence-based indications and recommendations of IVIG therapy in these disorders. Despite considerable efforts to define the role and mechanisms of IVIG, ...

journal_title：Journal of neurology

authors： Archelos JJ,Fazekas F

更新日期：2006-09-01 00:00:00

abstract：:Amyloid positron emission tomography ([18F] florbetaben (FBB) PET) can be used to determine concomitant Alzheimer's disease (AD) in idiopathic normal pressure hydrocephalus (iNPH) patients. FBB PET scans and the tap test were performed in 31 patients with clinically suspected iNPH, and amyloid positive (iNPH/FBB+) and...

journal_title：Journal of neurology

authors： Jang H,Park SB,Kim Y,Kim KW,Lee JI,Kim ST,Lee KH,Kang ES,Choe YS,Seo SW,Kim HJ,Kim YJ,Yoon CW,Na DL

更新日期：2018-01-01 00:00:00

abstract：:Fatigue is a common symptom of multiple sclerosis (MS) even in the early phases of the disease, when neurological disability is usually still not present. To investigate the pathophysiology of fatigue we compared neurophysiological (motor evoked potentials of the four limbs, MEPs) and brain magnetic resonance imaging ...

journal_title：Journal of neurology

authors： Colombo B,Martinelli Boneschi F,Rossi P,Rovaris M,Maderna L,Filippi M,Comi G

更新日期：2000-07-01 00:00:00

abstract：:Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients ...

journal_title：Journal of neurology

authors： Spieker S,Schulz JB,Petersen D,Fetter M,Klockgether T,Dichgans J

更新日期：1995-08-01 00:00:00

abstract：BACKGROUND AND PURPOSE:The association between anticardiolipin antibodies (aCL) and thrombosis is well recognized, but its role as an independent risk factor for stroke is not. The study's aim was to investigate the presence of antiphospholipid antibodies (aPL) and ischemic vascular events by using both traditional mea...

journal_title：Journal of neurology

authors： Caso V,Parnetti L,Panarelli P,Magni MP,Gallai V,Albi E

更新日期：2003-05-01 00:00:00

abstract：:Autoradiographic investigations with 3H-thymidine were performed on cerebrospinal fluid (CSF) cells from a case of meningeal carcinomatosis following carcinoma of the breast. The cells were found to be anaplastic histologically. Within a period of 12 days 3 X 25 mg methotrexate were injected into the subarachnoid spac...

journal_title：Journal of neurology

authors： Engelhardt P

更新日期：1976-10-04 00:00:00

abstract：:Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid alpha-1,4-glucosidase deficiency and associated with recessive mutations in its coding gene GAA. Few studies have provided so far a detailed phenotypical characterization in late onset GSDII (LO-GSDII) patients. Genotype-phenotype ...

journal_title：Journal of neurology

authors： Remiche G,Ronchi D,Magri F,Lamperti C,Bordoni A,Moggio M,Bresolin N,Comi GP

更新日期：2014-01-01 00:00:00

abstract：:Clinical and experimental investigations have shown that magnesium depletion causes a marked irritability of the nervous system, eventually resulting in epileptic seizures. Although magnesium deficiency as a cause of epilepsy is uncommon, its recognition and correction may prove life-saving. Two case reports are prese...

journal_title：Journal of neurology

authors： Nuytten D,Van Hees J,Meulemans A,Carton H

更新日期：1991-08-01 00:00:00

abstract：:Parkinson's disease (PD) is preceded by a premotor phase of unknown duration. Dopaminergic degeneration during this phase may lead to subtle cognitive and behavioural changes, such as decreased novelty seeking. Consequently, premotor subjects might be most comfortable in jobs that do not require optimal dopamine level...

journal_title：Journal of neurology

authors： Haaxma CA,Borm GF,van der Linden D,Kappelle AC,Bloem BR

更新日期：2015-09-01 00:00:00

abstract：:Cerebrospinal fluid (CSF) levels of interleukin (IL)-6, IL-11 and leukaemia inhibitory factor (LIF) were evaluated in 43 patients with Alzheimer's disease (AD) and 24 patients with frontotemporal lobar degeneration (FTLD) as compared with 30 agematched controls (CON), and correlated with clinical and demographic data ...

journal_title：Journal of neurology

authors： Galimberti D,Venturelli E,Fenoglio C,Guidi I,Villa C,Bergamaschini L,Cortini F,Scalabrini D,Baron P,Vergani C,Bresolin N,Scarpini E

更新日期：2008-04-01 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：:Hereditary 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...

journal_title：Journal of neurology

authors： Attarian S,Fatehi F,Rajabally YA,Pareyson D

更新日期：2020-08-01 00:00:00

abstract：:A low dietary intake of unsaturated fatty acids has been found in male patients with stroke as compared with controls in Italy, and a high consumption of meat has been associated with an increased risk of stroke in Australia. We present a case-control study, comparing the unsaturated and saturated fatty acids content ...

journal_title：Journal of neurology

authors： Ricci S,Celani MG,Righetti E,Caruso A,De Medio G,Trovarelli G,Romoli S,Stragliotto E,Spizzichino L

更新日期：1997-06-01 00:00:00

abstract：:An 18-year-old man suffered from acute Sydenham chorea appearing coincidently with beta-haemolytic streptococcal throat infection. Imaging techniques documented lesions of basal ganglia and substantia nigra. In the early course of the disease vascular lesions may be important pathogenetic mechanisms of this acquired m...

journal_title：Journal of neurology

authors： Heye N,Jergas M,Hötzinger H,Farahati J,Pöhlau D,Przuntek H

更新日期：1993-02-01 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：: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：:Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, e...

journal_title：Journal of neurology

authors： Begeti F,Tan AY,Cummins GA,Collins LM,Guzman NV,Mason SL,Barker RA

更新日期：2013-11-01 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