Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

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：:Disturbances of balance, gait and posture are a hallmark of parkinsonian syndromes. Recognition of these axial features can provide important and often early clues to the nature of the underlying disorder, and, therefore, help to disentangle Parkinson's disease from vascular parkinsonism and various forms of atypical ...

journal_title：Journal of neurology

authors： Raccagni C,Nonnekes J,Bloem BR,Peball M,Boehme C,Seppi K,Wenning GK

更新日期：2020-11-01 00:00:00

abstract：:Carbon monoxide (CO) intoxication leads to acute and chronic neurological deficits, but little is known about the specific noxious mechanisms. (1)H magnetic resonance spectroscopy (MRS) may allow insight into the pathophysiology of CO poisoning by monitoring neurochemical disturbances, yet only limited information is ...

journal_title：Journal of neurology

authors： Kondziella D,Danielsen ER,Hansen K,Thomsen C,Jansen EC,Arlien-Soeborg P

更新日期：2009-06-01 00:00:00

abstract：:In multiple sclerosis (MS), randomly located demyelination lesions may involve a large part of the central nervous system and disturb oculomotor activity, including impairment of saccadic and pursuit systems. The aim of the work was to determine the frequency of smooth pursuit disturbances in MS patients and assess th...

journal_title：Journal of neurology

authors： Jozefowicz-Korczynska M,Pajor AM

更新日期：2011-10-01 00:00:00

abstract：:Levodopa therapy is essential for patients in the advanced stages of Parkinson's disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The m...

journal_title：Journal of neurology

authors： Kondo T

更新日期：2002-09-01 00:00:00

abstract：:Surface antigens on peripheral blood lymphocytes from myasthenia gravis patients were investigated. The expression of DR+ and CD8+/DR+ T lymphocytes was increased and the expression of CD4+ T cells reduced. Neither thymectomy, clinical condition nor anti-acetylcholine receptor antibody titre correlated with any of the...

journal_title：Journal of neurology

authors： Crosti F,Armanini M,Confalonieri P,Antozzi C,Mantegazza R

更新日期：1994-02-01 00:00:00

abstract：BACKGROUND:Rehabilitation seems to promote brain plasticity, but objective measures of efficacy are lacking and there is a limited understanding of the mechanisms underlying functional recovery. OBJECTIVE:To study functional and structural brain changes induced by gait rehabilitation. METHODS:We enrolled MS inpatient...

journal_title：Journal of neurology

authors： Tavazzi E,Bergsland N,Cattaneo D,Gervasoni E,Laganà MM,Dipasquale O,Grosso C,Saibene FL,Baglio F,Rovaris M

更新日期：2018-06-01 00:00:00

abstract：:Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...

journal_title：Journal of neurology

authors： Kimmig H,Haussmann K,Mergner T,Lücking CH

更新日期：2002-06-01 00:00:00

abstract：:Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of s...

journal_title：Journal of neurology

authors： Honrath P,Dogan I,Wudarczyk O,Görlich KS,Votinov M,Werner CJ,Schumann B,Overbeck RT,Schulz JB,Landwehrmeyer BG,Gur RE,Habel U,Reetz K,Enroll-HD investigators.

更新日期：2018-11-01 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：:The neutrotrophins stimulate survival and differentiation of a range of target neurons. A wealth of evidence suggests that central cholinergic neurons depend on nerve growth factor (NGF) for trophic support. Grafts of NGF-producing cells rescue axotomized basal forebrain cholinergic neurons and reduce cholinergic cell...

journal_title：Journal of neurology

authors： Ebendal T,Lönnerberg P,Pei G,Kylberg A,Kullander K,Persson H,Olson L

更新日期：1994-12-01 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：BACKGROUND:The nonischemic forearm exercise test (NIFET) has been shown to be as effective as the classic ischemic forearm exercise test (IFET) in the diagnosis of patients with McArdle disease. Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate s...

journal_title：Journal of neurology

authors： Hanisch F,Eger K,Bork S,Lehnich H,Deschauer M,Zierz S

更新日期：2006-06-01 00:00:00

abstract：: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 pa...

journal_title：Journal of neurology

authors： Sarasso E,Agosta F,Piramide N,Bianchi F,Butera C,Gatti R,Amadio S,Del Carro U,Filippi M

更新日期：2020-04-01 00:00:00

abstract：:Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagn...

journal_title：Journal of neurology

authors： Iannaccone S,Zucconi M,Quattrini A,Nemni R,Comola M,Taccagni L,Smirne S

更新日期：1991-07-01 00:00:00

abstract：:The influence of portal-systemic shunting on maximal motor nerve conduction velocity (MCV) was analyzed in rats with portacaval shunts. At 3 and 8 weeks after the shunting there was a marked but transient fall in MCV. This was not prevented by colectomy. At 16 weeks the MCV had almost normalized, despite sustained por...

journal_title：Journal of neurology

authors： Hindfelt B,Holmin T

更新日期：1980-01-01 00:00:00

abstract：:The short-term benefits of levodopa/carbidopa intestinal gel (LCIG) in patients with advanced Parkinson's disease (PD) are well documented, but the long-term benefits are still uncertain. The aim of this study was to investigate the motor and cognitive outcome of LCIG treatment in advanced PD after a follow-up period ...

journal_title：Journal of neurology

authors： Cáceres-Redondo MT,Carrillo F,Lama MJ,Huertas-Fernández I,Vargas-González L,Carballo M,Mir P

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:A growing number of studies have been conducted on the relationship between anger and hostility and the risk of stroke, and their conclusions are not consistent. Accordingly, we performed a meta-analysis to evaluate the relationship between anger and hostility and the risk of stroke. METHODS:We searched the ...

journal_title：Journal of neurology

authors： Chen H,Zhang B,Xue W,Li J,Li Y,Fu K,Chen X,Sun M,Shi H,Tian L,Teng W

更新日期：2019-04-01 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：:We measured changes in brain magnetization transfer ratio (MTR) as a potential indicator of myelin density in brain tissue of patients with relapsing-remitting multiple sclerosis (RRMS) treated with delayed-release dimethyl fumarate (DMF) in the Phase 3 DEFINE study. DEFINE was a randomized, double-blind, placebo-cont...

journal_title：Journal of neurology

authors： Arnold DL,Gold R,Kappos L,Bar-Or A,Giovannoni G,Selmaj K,Yang M,Zhang R,Stephan M,Sheikh SI,Dawson KT

更新日期：2014-12-01 00:00:00

abstract：:To clarify the changes of cervical (cVEMP) and ocular (oVEMP) vestibular evoked myogenic potentials induced by air-conducted sound (ACS) and bone-conducted vibration (BCV) in patients with vestibular neuritis (VN), patients with VN (n = 30) and normal controls (n = 45) underwent recording of cVEMP and oVEMP in respons...

journal_title：Journal of neurology

authors： Oh SY,Kim JS,Yang TH,Shin BS,Jeong SK

更新日期：2013-08-01 00:00:00

abstract：:Even though trigeminovestibular connections are well established in animals, mastication-induced dizziness has been described only as a vascular steal phenomenon in humans. We determined induction or modulation of nystagmus in two index patients with mastication-induced vertigo, 12 normal controls, and 52 additional p...

journal_title：Journal of neurology

authors： Park SH,Kim HJ,Kim JS,Koo JW,Oh SW,Kim DU,Kim JT,Welgampola M,Deriu F

更新日期：2014-03-01 00:00:00

abstract：:Intrathecal IgG synthesis has been investigated by determining the IgG index and by isoelectric focusing in 30 cases of definite multiple sclerosis, in 15 cases of probable multiple sclerosis and in 128 patients affected by other neurological diseases. The blood-brain barrier function was evaluated at the same time by...

journal_title：Journal of neurology

authors： Poloni M,Rocchelli B,Scelsi R,Pinelli P

更新日期：1979-10-01 00:00:00

abstract：:Differentiation of herpes simplex virus (HSV) types 1 and 2 in cerebrospinal fluid of 17 patients with serologically diagnosed HSV encephalitis and meningitis or acute limbic encephalitis was determined by stringent hybridization of polymerase chain reaction--amplified DNAs. Ten of 17 patients were positive; six with ...

journal_title：Journal of neurology

authors： Shoji H,Koga M,Kusuhara T,Kaji M,Ayabe M,Hino H,Hondo R

更新日期：1994-08-01 00:00:00

abstract：:The neurochemical abnormalities underlying vascular parkinsonism (VP) have not been well characterised. A better understanding may help to optimize pharmacological interventions. Since VP patients generally have a poorer response to l-Dopa than Parkinson's disease (PD) patients, we investigated whether levels of relev...

journal_title：Journal of neurology

authors： Herbert MK,Kuiperij H,Bloem BR,Verbeek MM

更新日期：2013-12-01 00:00:00

abstract：:Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. Clinical, laboratory, and genetic studies were performed in three family members. The proband's symp...

journal_title：Journal of neurology

authors： Tacik P,Loens S,Schrader C,Gayde-Stephan S,Biskup S,Dressler D

更新日期：2014-10-01 00:00:00

abstract：:Cerebellar syndrome is one of the most disabling developments in multiple sclerosis (MS). In neurodegenerative disorders, cerebellar syndrome is thought to be related to a neurochemical deficit of 5-hydroxytryptamine (5-HT). Previous studies found that a levorotatory form of 5-hydroxytryptophan, a 5-HT precursor, and ...

journal_title：Journal of neurology

authors： Monaca-Charley C,Stojkovic T,Duhamel A,De Seze J,Ferriby D,Vermersch P

更新日期：2003-10-01 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：:There has been a resurgence in the use of functional neurosurgery for Parkinson's disease. An important factor that has played a role in this development is the recent understanding of the functional anatomy of the basal ganglia including a knowledge of the changes in the activities of neurons in the internal segment ...

journal_title：Journal of neurology

authors： Lang AE,Duff J,Saint-Cyr JA,Trepanier L,Gross RE,Lombardi W,Montgomery E,Hutchinson W,Lozano AM

更新日期：1999-09-01 00:00:00

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