SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

abstract：:Prognosis of patients with ischemic stroke requiring mechanical ventilation (MV) has been reported to be poor. However, longterm survival and functional outcome have scarcely been studied and nothing is known about the prevalence of cognitive impairment or depression in survivors and their quality of life (QoL). We id...

journal_title：Journal of neurology

authors： Schielke E,Busch MA,Hildenhagen T,Holtkamp M,Küchler I,Harms L,Masuhr F

更新日期：2005-06-01 00:00:00

abstract：:Hemichorea-hemiballism (HCHB) was infrequently related to cortical lesions such as tumor or infarction. Although functional derangement of the basal ganglia (BG) or the thalamus (Th) was suggested, pathomechanism of HCHB secondary to cortical lesions remains uncertain. We recruited the patients with HCHB secondary to ...

journal_title：Journal of neurology

authors： Hwang KJ,Hong IK,Ahn TB,Yi SH,Lee D,Kim DY

更新日期：2013-12-01 00:00:00

abstract：:Palatal myoclonus is thought to occur after damage to certain brain-stem structures, and with a delay following the causative lesion. A case of palatal myoclonus, probably of epileptic nature, is described. ...

journal_title：Journal of neurology

authors： Emre M

更新日期：1992-04-01 00:00:00

abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting o...

journal_title：Journal of neurology

authors： Kan L,Kitterman JA,Procissi D,Chakkalakal S,Peng CY,McGuire TL,Goldsby RE,Pignolo RJ,Shore EM,Kaplan FS,Kessler JA

更新日期：2012-12-01 00:00:00

abstract：:Two right-handed patients who exhibited language disability after left frontal infarction are described. The patients spoke fluently and exhibited excellent repetition ability from the onset of infarction without exhibiting any oral apraxia, but had deficits in auditory comprehension, naming, reading and writing. In b...

journal_title：Journal of neurology

authors： Otsuki M,Soma Y,Koyama A,Yoshimura N,Furukawa H,Tsuji S

更新日期：1998-02-01 00:00:00

abstract：:After head injuries, particularly mild or moderate ones, a range of post-concussion symptoms (PCS) are often reported by patients. Such symptoms may significantly affect patients' psychosocial functioning. To date, no measure of the severity of PCS has been developed. This study presents the Rivermead Post Concussion ...

journal_title：Journal of neurology

authors： King NS,Crawford S,Wenden FJ,Moss NE,Wade DT

更新日期：1995-09-01 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：:Postpartum lower limb motor and/or sensory deficit is an uncommon obstetrical complication. We aimed to identify its incidence, etiology, and precipitating factors, as well as the neurological prognosis by retrospectively analyzing the successive neurological evaluations, electrophysiological, and MRI data from all th...

journal_title：Journal of neurology

authors： Richard A,Vellieux G,Abbou S,Benifla JL,Lozeron P,Kubis N

更新日期：2017-03-01 00:00:00

abstract：:The cases of identical twins with ataxia telangiectasia, early intellectual impairment and progressive spasticity are reported. Immunological tests revealed reduced levels of serum and salivary IgA, increased B cells, reduced T cells and raised alpha-fetoprotein. CT scan performed in one of the twins was normal. The p...

journal_title：Journal of neurology

authors： Meshram CM,Sawhney IM,Prabhakar S,Chopra JS

更新日期：1986-10-01 00:00:00

abstract：:Sudden death has been reported in patients with multiple system atrophy (MSA), although the frequency of this event has not been well delineated. We investigated the frequency and potential causes of sudden death in patients with MSA. During the 5-year observation period, 10 of 45 patients with probable MSA died. The ...

journal_title：Journal of neurology

authors： Shimohata T,Ozawa T,Nakayama H,Tomita M,Shinoda H,Nishizawa M

更新日期：2008-10-01 00:00:00

abstract：:We describe the case of a 40-year-old male patient who had presented clinically as primary lateral sclerosis for the past 10 years and neuropathologically as diffuse Lewy body disease (DLBD). Neuropathology demonstrated DLBD as an almost ubiquitous disorder of the neuronal cytoskeleton. ...

journal_title：Journal of neurology

authors： Hainfellner JA,Pilz P,Lassmann H,Ladurner G,Budka H

更新日期：1995-01-01 00:00:00

abstract：:Cerebral ischemia of 15 min was produced in rats by increasing intracranial pressure above the systolic blood pressure level by infusing artificial cerebrospinal fluid into the cisterna magna. Pulmonary edema was prevented by blocking the vasomotor response with a ganglioplegic agent, and reducing the fluid load by pe...

journal_title：Journal of neurology

authors： Kawakami S,Hossmann KA

更新日期：1977-12-01 00:00:00

abstract：BACKGROUND:In December 2019, unexplained cases of pneumonia emerged in Wuhan, China, which were found to be secondary to the novel coronavirus SARS-CoV-2. On March 11, 2020, the WHO declared the Coronavirus Disease 2019 (COVID-2019) outbreak, a pandemic. OBJECTIVE:To clarify the neurological complications of SARS-CoV-...

journal_title：Journal of neurology

authors： Ghannam M,Alshaer Q,Al-Chalabi M,Zakarna L,Robertson J,Manousakis G

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:D-dimer levels are used in several clinical settings, such as in predicting venous thrombosis, cardioembolic stroke and cancer status. In the present study, we investigated the associations between plasma D-dimer levels at admission, clinical characteristics and mortality at discharge in cryptogenic stroke p...

journal_title：Journal of neurology

authors： Nezu T,Kitano T,Kubo S,Uemura J,Yamashita S,Iwanaga T,Inoue T,Hosomi N,Maruyama H,Matsumoto M,Kimura K,Yagita Y

更新日期：2018-03-01 00:00:00

abstract：:Bilateral paramedian thalamic infarctions are usually associated with impaired consciousness, oculomotor disturbances and neuropsychological changes. A 44-year-old healthy woman presented with amaurosis fugax of the right eye immediately after a Valsalva maneuver. Neurological examination, in particular visual acuity,...

journal_title：Journal of neurology

authors： Emond H,Landis T,Perren F

更新日期：2009-06-01 00:00:00

abstract：:The production and release of extracellular vesicles (EV) is a property shared by all eukaryotic cells and a phenomenon frequently exacerbated in pathological conditions. The protein cargo of EV, their cell type signature and availability in bodily fluids make them particularly appealing as biomarkers. We recently dem...

journal_title：Journal of neurology

authors： Denis HL,Lamontagne-Proulx J,St-Amour I,Mason SL,Weiss A,Chouinard S,Barker RA,Boilard E,Cicchetti F

更新日期：2018-11-01 00:00:00

abstract：:Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in neurodegenerative and storage disorders: 20 children had various mucopolysaccharidoses, 8 sphingolipidoses , 3 mucolipidoses, 2 oligosaccharidoses , 3 ceroidlipofuscinoses an...

journal_title：Journal of neurology

authors： Wende S,Ludwig B,Kishikawa T,Rochel M,Gehler J

更新日期：1984-01-01 00:00:00

abstract：BACKGROUND AND PURPOSE:The use of early prognostic data provided by various scores in critically ill stroke patients remains unclear. We tested the performance of the Simplified Acute Physiology Score (SAPS) II in prediction of mortality of acute stroke patients in the NeuroCriticalCareUnit (NCCU). METHODS:During one ...

journal_title：Journal of neurology

authors： Handschu R,Haslbeck M,Hartmann A,Fellgiebel A,Kolominsky-Rabas P,Schneider D,Berrouschot J,Erbguth F,Reulbach U

更新日期：2005-10-01 00:00:00

abstract：:Most inflammatory neuropathies, both acute and chronic, probably result from an immune attack against antigens of the peripheral nervous system. Specific antibodies in serum that react with the peripheral nervous system have been described in a number of inflammatory neuropathies. We review the pathophysiological sign...

journal_title：Journal of neurology

authors： Steck AJ

更新日期：2000-06-01 00:00:00

abstract：:The autopsy of a 68-year-old male who died of cardiac infarction revealed an ep - and intramedullary neurilemmoma of the spinal cord as an associated finding half a year prior to death. The patient had suffered from progressive weakness and sensory disturbances of the lower limbs together with muscular wasting for 6 m...

journal_title：Journal of neurology

authors： Schmitt HP

更新日期：1975-08-01 00:00:00

abstract：OBJECTIVE:Patient reported outcome measures (PROMs) can provide researchers with a direct view of patients' experiences. They are becoming increasingly important tools for evaluating clinical care and research outcomes. There has been little data on the application of PROMs to amyotrophic lateral sclerosis (ALS) care. ...

journal_title：Journal of neurology

authors： De Marchi F,Berry JD,Chan J,Caldwell S,Ellrodt A,Scalia J,Burke K,Fang T,Clark Sisodia R,Schwamm LH,Moura LMVR,Paganoni S

更新日期：2020-06-01 00:00:00

abstract：:In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and ...

journal_title：Journal of neurology

authors： Caligiuri ME,Arabia G,Barbagallo G,Lupo A,Morelli M,Nisticò R,Novellino F,Quattrone A,Salsone M,Vescio B,Cherubini A,Quattrone A

更新日期：2017-09-01 00:00:00

abstract：:Altered cerebral vasoreactivity (CVR) has been implicated in migraine. To test this hypothesis, we studied CVR as measured by transcranial Doppler ultrasound (TCD) in 11 migraineurs and 12 healthy controls of similar age. Mean flow velocities (MFV) in the middle cerebral artery (MCA) were recorded during a cognitive a...

journal_title：Journal of neurology

authors： Thie A,Carvajal-Lizano M,Schlichting U,Spitzer K,Kunze K

更新日期：1992-07-01 00:00:00

abstract：:Using a novel trial design, we prospectively examined the effect of intravenous immunoglobulin in seven patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a double-blind, placebo-controlled cross-over study. We suggest that the commonly used manual muscle testing and Rankin scale are not...

journal_title：Journal of neurology

authors： Thompson N,Choudhary P,Hughes RA,Quinlivan RM

更新日期：1996-03-01 00:00:00

abstract：:The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mende...

journal_title：Journal of neurology

authors： Lubbe S,Morris HR

更新日期：2014-02-01 00:00:00

abstract：:Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated cardiomyopathy and myofibrillar myopathy. Recently, a novel c.625C>T (p.Pro209Ser) mutation in BAG3 was reported to cause axonal Charcot-Marie-Tooth (CMT) disease in three families. Here, we describe two patients with adult-onset and moderate CMT in a Ch...

journal_title：Journal of neurology

authors： Fu J,Ma M,Song J,Pang M,Li G,Zhang J

更新日期：2020-04-01 00:00:00

abstract：:Moderate unilateral cerebral ischemia was produced by microembolism in 24 adult cats. Two million plastic microspheres with a diameter of 15 +/- 5 microns were injected into the left common carotid artery via the lingual artery. The physiological and metabolic responses to embolism were accessed by electrocorticograp...

journal_title：Journal of neurology

authors： Sugi T,Schuier FJ,Hossmann KA,Zülch KJ

更新日期：1980-01-01 00:00:00

abstract：:The objective was to identify factors associated with decisions made by patients with amyotrophic lateral sclerosis (ALS) to accept or decline non-invasive ventilation (NIV) and/or gastrostomy in a prospective population-based study. Twenty-one people with ALS, recruited from the South-East ALS Register who made an in...

journal_title：Journal of neurology

authors： Greenaway LP,Martin NH,Lawrence V,Janssen A,Al-Chalabi A,Leigh PN,Goldstein LH

更新日期：2015-01-01 00:00:00

abstract：:We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APD...

journal_title：Journal of neurology

authors： Müller J,Wenning GK,Wissel J,Seppi K,Poewe W

更新日期：2002-03-01 00:00:00

abstract：:The pathogenesis of myopathies occurring in critically ill patients (critical illness myopathy, CIM) is poorly understood. Both local and systemic responses to sepsis and other severe insults to the body are presumed to be involved but the precise mechanisms by which muscle function is impaired are far from clear. To ...

journal_title：Journal of neurology

authors： Friedrich O,Hund E,Weber C,Hacke W,Fink RH

更新日期：2004-01-01 00:00:00