Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.

abstract：OBJECTIVE:Childhood arterial ischaemic stroke (AIS) is rare, but causes significant morbidity and mortality. We aimed to investigate incidence, age-dependent clinical presentation, and risk factors and to discuss the medical care situation in Germany. METHODS:This prospective epidemiological study was conducted via ES...

journal_title：Journal of neurology

authors： Gerstl L,Weinberger R,Heinen F,Bonfert MV,Borggraefe I,Schroeder AS,Tacke M,Landgraf MN,Vill K,Kurnik K,Sorg AL,Olivieri M

更新日期：2019-12-01 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：:The concentrations of glucose, pyruvate and lactate were determined in the blood and lumbar CSF of 63 patients with neuromuscular disorders and 40 controls. The glucose/lactate and lactate/pyruvate ratios were also calculated, in addition to the cytoplasmic NADH/NAD+ (nicotinamide-adenine dinucleotide-H/nicotinamide-a...

journal_title：Journal of neurology

authors： Mechler F,Diószeghy P,Csenkér E,Molnár L

更新日期：1981-01-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS), which is the most serious form of degenerative motor neuron disease in adults, is characterized by upper and lower motor neuron degeneration, skeletal muscle atrophy, paralysis, and death. Some patients with respiratory-dependent ALS die of sudden cardiac arrest or anoxic encephalo...

journal_title：Journal of neurology

authors： Tanaka Y,Yamada M,Koumura A,Sakurai T,Hayashi Y,Kimura A,Hozumi I,Inuzuka T

更新日期：2013-09-01 00:00:00

abstract：:A man, aged 63, had an illness which lasted 11 months from onset with pain under the left costal margin which radiated to the epigastrium, until his death from cardiac failure. His symptoms consisted principally of parasthesias and proximal weakness of both upper and lower extremities with atrophy of the shoulder and ...

journal_title：Journal of neurology

authors： Zangemeister WH,Schwendemann G,Colmant HJ

更新日期：1978-04-14 00:00:00

abstract：:Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literatu...

journal_title：Journal of neurology

authors： Dressler D,Bhidayasiri R,Bohlega S,Chahidi A,Chung TM,Ebke M,Jacinto LJ,Kaji R,Koçer S,Kanovsky P,Micheli F,Orlova O,Paus S,Pirtosek Z,Relja M,Rosales RL,Sagástegui-Rodríguez JA,Schoenle PW,Shahidi GA,Timerbaeva S,

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:Perivascular spaces can become detectable on magnetic resonance imaging (MRI) upon enlargement, referred to as enlarged perivascular spaces (EPVS) or Virchow-Robin spaces. EPVS have been linked to small vessel disease. Some studies have also indicated an association of EPVS to neuroinflammation and/or neurod...

journal_title：Journal of neurology

authors： Granberg T,Moridi T,Brand JS,Neumann S,Hlavica M,Piehl F,Ineichen BV

更新日期：2020-11-01 00:00:00

abstract：OBJECTIVES:To evaluate daily life management and functional outcome of Idarucizumab administration in case of emergency situations in patients with Dabigatran treatment. DESIGN:Multicenter observational registry study. SETTING:All hospitals with full neurological departments (n = 6) in Munich, Germany INCLUDED PATIEN...

journal_title：Journal of neurology

authors： Küpper C,Feil K,Klein M,Feuerecker R,Lücking M,Thanbichler F,Dietrich D,Zerkaulen I,Jandl M,Marziniak M,Poppert H,Wunderlich S,Topka H,Dieterich M,Kellert L

更新日期：2019-11-01 00:00:00

abstract：:Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In th...

journal_title：Journal of neurology

authors： Del Bo R,Comi GP,Giorda R,Crimi M,Locatelli F,Martinelli-Boneschi F,Pozzoli U,Castelli E,Bresolin N,Scarlato G

更新日期：2003-06-01 00:00:00

abstract：:Histopathological and magnetic resonance imaging (MRI) studies have shown white matter (WM) damage in early stages of multiple sclerosis (MS) beyond the apparent T2-hyperintense lesions. These changes in normal appearing WM (NAWM) are important with regard to the clinical picture and prognosis. However, the detection ...

journal_title：Journal of neurology

authors： Beer A,Biberacher V,Schmidt P,Righart R,Buck D,Berthele A,Kirschke J,Zimmer C,Hemmer B,Mühlau M

更新日期：2016-08-01 00:00:00

abstract：:The carotid bifurcations and the common carotid arteries of 36 patients with the diagnosis hyperactive carotid sinus syndrome (HCSS) were investigated by continuous wave (CW) Doppler ultrasonography and high-resolution real-time B-scan. Using these non-invasive tests, the functional impact of luminal stenosis and the ...

journal_title：Journal of neurology

authors： Wiedemann G,Grötz J,Bewermeyer H,Hossmann V,Heiss WD

更新日期：1985-01-01 00:00:00

abstract：:Current findings suggest that multipotent stem cells may be suitable for cell replacement therapies in the treatment of neurodegenerative disorders. Embryonic stem (ES) cells are pluripotent cells isolated from the inner cell mass of the preimplantation blastocyst, which give rise to all cells in the organism. Similar...

journal_title：Journal of neurology

authors： Gerlach M,Braak H,Hartmann A,Jost WH,Odin P,Priller J,Schwarz J

更新日期：2002-10-01 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：:Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have...

journal_title：Journal of neurology

authors： Vermeer S,Kremer HP,Leijten QH,Scheffer H,Matthijs G,Wevers RA,Knoers NA,Morava E,Lefeber DJ

更新日期：2007-10-01 00:00:00

abstract：:Acyclovir treatment was used in a randomized, double-blind, placebo-controlled clinical trial with parallel groups to test the hypothesis that herpes virus infections are involved in the pathogenesis of multiple sclerosis (MS). Sixty patients with the relapsing-remitting form of MS were randomized to either oral treat...

journal_title：Journal of neurology

authors： Lycke J,Svennerholm B,Hjelmquist E,Frisén L,Badr G,Andersson M,Vahlne A,Andersen O

更新日期：1996-03-01 00:00:00

abstract：:A recently developed technique is used to study the permeation of water through membranes of human erythrocyte ghosts. The method, based on the difference of the indices of refraction of H2O and D2O, is briefly described. Comparative measurements on erythrocyte ghosts from normal donors and from patients with Huntingt...

journal_title：Journal of neurology

authors： Vigenschow H,Przuntek H,Lawaczeck R

更新日期：1984-01-01 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：:Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFT...

journal_title：Journal of neurology

authors： Ferner RE,Shaw A,Evans DG,McAleer D,Halliday D,Parry A,Raymond FL,Durie-Gair J,Hanemann CO,Hornigold R,Axon P,Golding JF

更新日期：2014-05-01 00:00:00

abstract：:A case is reported of severe agnosia for verbal and non-verbal sounds without associated aphasic disorder. A CT scan revealed bilateral, temporal lobe lesions from two ischaemic accidents that had occurred 9 months apart. The search for subtle deficits in the patient showed normal sensitivity to changes in the intensi...

journal_title：Journal of neurology

authors： Rosati G,De Bastiani P,Paolino E,Prosser S,Arslan E,Artioli M

更新日期：1982-01-01 00:00:00

abstract：:We evaluated cyclosporine A (CsA) treatment in 9 patients (6 female and 3 male), 16-63 years old, with severe myasthenia gravis (MG) for a mean period of 2 years (range 16-36 months). All of the patients had been previously treated either with corticosteroids or by combined immunotherapy, and 5 needed periodic plasma ...

journal_title：Journal of neurology

authors： Bonifati DM,Angelini C

更新日期：1997-09-01 00:00:00

abstract：:The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

journal_title：Journal of neurology

authors： Simon NG,Kiernan MC

更新日期：2013-07-01 00:00:00

abstract：:Non motor symptoms (NMS) of PD are a key determinant of health, quality of life and societal cost of PD. Contrary to common perception, many NMS of PD occur early in PD and some may even predate the diagnosis of PD which is based on motor signs. These include olfactory deficit, sleep problems such as REM behaviour dis...

journal_title：Journal of neurology

authors： Chaudhuri KR,Naidu Y

更新日期：2008-09-01 00:00:00

abstract：:Although the beneficial effect of subcutaneous injections of botulinum toxin type A (BTX-A) is well known in both blepharospasm and hemifacial spasm, the position of the injection sites around the orbicularis oculi may influence the effectiveness and side effects. Here we report results of preseptal and pretarsal BTX-...

journal_title：Journal of neurology

authors： Cakmur R,Ozturk V,Uzunel F,Donmez B,Idiman F

更新日期：2002-01-01 00:00:00

abstract：:Chronic exposure to manganese may induce parkinsonism similar to idiopathic Parkinson's disease (PD). However, clinical manifestations of manganism also have some features different from PD. The mechanisms of manganese-induced parkinsonism remain not fully understood. (99m)Tc-TRODAT-1 is a cocaine analogue that can bi...

journal_title：Journal of neurology

authors： Huang CC,Weng YH,Lu CS,Chu NS,Yen TC

更新日期：2003-11-01 00:00:00

abstract：:We explored how changes in visual attention impacted postural motor performance in healthy elders and adults post-stroke within a virtual reality environment, including when vestibular information was not perceptible. Visual dependence in 13 healthy (50-80 years) and 13 adults post-stroke (49-70 years) was assessed wi...

journal_title：Journal of neurology

authors： Slaboda JC,Keshner EA

更新日期：2012-12-01 00:00:00

abstract：BACKGROUND:Little is known about the change in prevalence of comorbidities during the disease course of people with multiple sclerosis (MS) and whether the prevalences vary by MS onset type. OBJECTIVE:To calculate the change in prevalence of comorbidities between symptom onset and the time of study, to compare the pre...

journal_title：Journal of neurology

authors： Lo LMP,Taylor BV,Winzenberg T,Palmer AJ,Blizzard L,van der Mei I

更新日期：2020-09-03 00:00:00

abstract：:In this study of patients with spontaneous cervical artery dissections (sCAD) we searched for mutations in ABCC6, the candidate gene for Pseudoxanthoma elasticum (PXE). Genomic DNA samples from 12 sCAD patients with pronounced electron microscopic alterations in their dermal connective tissue and from 2 patients with ...

journal_title：Journal of neurology

authors： Morcher M,Hausser I,Brandt T,Grond-Ginsbach C

更新日期：2003-08-01 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：:We investigated the effect of chronic mechanical compression of the cervical spinal cord on the number of spinal accessory motoneurons in 25 tiptoe-walking Yoshimura mice. The animals had calcified deposits in the atlantoaxial membrane at the C1-C2 vertebral level, compressing the spinal cord posterolaterally. Motoneu...

journal_title：Journal of neurology

authors： Baba H,Maezawa Y,Uchida K,Imura S,Kawahara N,Tomita K,Kudo M

更新日期：1997-04-01 00:00:00

abstract：:Extra- and intraneural ganglionic cysts rarely involved peripheral nerves. They are found in the neighbourhood of large joints. Intraneural cysts prefer the deep peroneal nerve and cause intermittent pain and severe nerve damage. The ulnar nerve is affected most often at the wrist. There are different types of distal ...

journal_title：Journal of neurology

authors： Assmus H,Kühner A,Hagenlocher U

更新日期：1975-06-09 00:00:00