An unusual association of dentato-rubral degeneration with spinal ataxia, ophthalmoplegia and multiple cranial nerve palsies.

abstract：OBJECTIVE:We aimed to assess the effectiveness of conservative treatments in children with tension-type headaches (TTH). METHOD:We searched Medline, Embase and the Cochrane Library and performed reference checking. Two independent authors assessed trial quality and extracted data. Analysis was carried out according to...

journal_title：Journal of neurology

authors： Verhagen AP,Damen L,Berger MY,Passchier J,Merlijn V,Koes BW

更新日期：2005-10-01 00:00:00

abstract：:We recently reported findings that loss of cortical acetylcholinesterase (AChE) activity is greater in parkinsonian dementia than in Alzheimer's disease (AD). In this study we determined cognitive correlates of in vivo cortical AChE activity in patients with parkinsonian dementia (PDem, n = 11), Parkinson's disease wi...

journal_title：Journal of neurology

authors： Bohnen NI,Kaufer DI,Hendrickson R,Ivanco LS,Lopresti BJ,Constantine GM,Mathis ChA,Davis JG,Moore RY,Dekosky ST

更新日期：2006-02-01 00:00:00

abstract：:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...

journal_title：Journal of neurology

authors： von Pein F,Välkkilä M,Schwarz R,Morcher M,Klima B,Grau A,Ala-Kokko L,Hausser I,Brandt T,Grond-Ginsbach C

更新日期：2002-07-01 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：BACKGROUND:Recently, therapeutic attempts to control motor choreatic hyperkinesia of Huntington's disease (HD) by means of pallidal deep brain stimulation (Gp-DBS) were successful. With respect to the clinical effects of Gp-DBS in juvenile hypokinetic-rigid HD (jHD; Westphal variant), only one single-case has been repo...

journal_title：Journal of neurology

authors： Ferrea S,Groiss SJ,Elben S,Hartmann CJ,Dunnett SB,Rosser A,Saft C,Schnitzler A,Vesper J,Wojtecki L,Surgical Approaches Working Group of the European Huntington’s Disease Network (EHDN).

更新日期：2018-07-01 00:00:00

abstract：:Global aphasia is described as a unitary syndrome which is characterized by a severe impairment of all linguistic capabilities. Speech production is extremely limited and consists of stereotyped phrases, recurring utterances or a few isolated words which are usually neologistically distorted. The patients are unable t...

journal_title：Journal of neurology

authors： Stachowiak FJ,Huber W,Kerschensteiner M,Poeck K,Weniger D

更新日期：1977-01-13 00:00:00

abstract：:The diagnosis of neurosarcoidosis is often difficult; the imaging signs of spinal cord sarcoidosis sometimes mimic those of cervical spondylotic myelopathy, which is common in elderly persons. We examined the characteristics of spinal cord sarcoidosis in Japanese patients with neurosarcoidosis. This case series identi...

journal_title：Journal of neurology

authors： Sakushima K,Yabe I,Nakano F,Yoshida K,Tajima Y,Houzen H,Maruo Y,Sasaki H

更新日期：2011-12-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onse...

journal_title：Journal of neurology

authors： Piepers S,van den Berg LH,Brugman F,Scheffer H,Ruiterkamp-Versteeg M,van Engelen BG,Faber CG,de Visser M,van der Pol WL,Wokke JH

更新日期：2008-09-01 00:00:00

abstract：:The use of a dopamine agonist with a long duration of action has theoretical advantages in attempting to reduce the motor fluctuations in Parkinson's disease. We report the results of a double-blind controlled study of adding cabergoline, an ergot derivative with potent long-lasting high affinity for the D2 receptor, ...

journal_title：Journal of neurology

authors： Steiger MJ,El-Debas T,Anderson T,Findley LJ,Marsden CD

更新日期：1996-01-01 00:00:00

abstract：BACKGROUND:The epidemiology of paraneoplastic neurological syndromes (PNS) remains to be defined. We present here the first population-based incidence study and report the clinical spectrum and antibody profile of PNS in a large area in Northeastern Italy. METHODS:We performed a 9-year (2009-2017) population-based epi...

journal_title：Journal of neurology

authors： Vogrig A,Gigli GL,Segatti S,Corazza E,Marini A,Bernardini A,Valent F,Fabris M,Curcio F,Brigo F,Iacono D,Passadore P,Rana M,Honnorat J,Valente M

更新日期：2020-01-01 00:00:00

abstract：:There have been few reports on facioscapulohumeral dystrophy (FSHD) without 4q35 deletion. Most of them had either only mild FSHD phenotype or so called "borderline" EcoRI-fragments (35-38 kb). We analysed the clinical, electrophysiological, histological and genetic features of 46 consecutive patients from 31 families...

journal_title：Journal of neurology

authors： Krasnianski M,Neudecker S,Eger K,Jakubiczka S,Zierz S

更新日期：2003-09-01 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：:Elevated intracranial intravenous pressure is not routinely measured in clinical practice. Indirect evidence of increased venous pressure is reflected in the size change of the cerebral sinuses and the presence of venous infarctions. The purpose of this study is to evaluate the role of brain perfusion venous time-dens...

journal_title：Journal of neurology

authors： Darwish RS,Amiridze NS

更新日期：2011-08-01 00:00:00

abstract：RATIONALE:Phase I/II studies of autologous hematopoietic stem cell transplantation (HSCT) for multiple sclerosis ( MS) were initiated, based on results of experimental transplantation in animal models of multiple sclerosis and clinical observations in patients treated concomitantly for malignant disease. PATIENTS:Eigh...

journal_title：Journal of neurology

authors： Fassas A,Passweg JR,Anagnostopoulos A,Kazis A,Kozak T,Havrdova E,Carreras E,Graus F,Kashyap A,Openshaw H,Schipperus M,Deconinck E,Mancardi G,Marmont A,Hansz J,Rabusin M,Zuazu Nagore FJ,Besalduch J,Dentamaro T,Fouill

更新日期：2002-08-01 00:00:00

abstract：:To evaluate brainstem dysfunction, brainstem auditory-evoked potentials (BAEPs) were recorded in 13 patients with tardive dyskinesia. Only patients under 60 years of age were included because of the spontaneous dyskinetic syndromes that frequently occur in elderly persons. Clinical assessment was performed with the Ab...

journal_title：Journal of neurology

authors： Zeitlhofer J,Brainin M,Reisner T

更新日期：1984-01-01 00:00:00

abstract：:This review summarizes topical papers from the fields of neuro-ophthalmology and neuro-otology published from August 2013 to February 2015. The main findings are: (1) diagnostic criteria for pseudotumor cerebri have been updated, and the Idiopathic Intracranial Hypertension Treatment Trial evaluated the efficacy of ac...

journal_title：Journal of neurology

authors： Gold DR,Zee DS

更新日期：2015-12-01 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

abstract：:Stroke in young adults is not a rare entity, and often provides difficult management decisions for neurologists. The knowledge gained from stroke in older adults does not transfer easily to this younger group given the different causes of stroke observed. Cardiac causes of stroke are common in this group, but often co...

journal_title：Journal of neurology

authors： Cotter PE,Belham M,Martin PJ

更新日期：2010-11-01 00:00:00

abstract：:The long-duration response (LDR) to levodopa is an important component of the therapeutic response to the drug in Parkinson's disease (PD). Some characteristics are peculiar: it is independent from peripheral pharmacokinetics of levodopa, but it is dependent on the intervals between doses and on the size of each dose....

journal_title：Journal of neurology

authors： Zappia M,Nicoletti A

更新日期：2010-11-01 00:00:00

abstract：:The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impair...

journal_title：Journal of neurology

authors： Franceschi M,Parmigiani F,Zamproni P,Cairoli G,Canal N

更新日期：1984-01-01 00:00:00

abstract：:Thirty-five patients with intraventricular haemorrhage shown by CT underwent cerebral arteriography. In 15 patients arteriography showed an occlusion of a carotid or middle cerebral artery. Secondary bleeding into an infarction caused the intraventricular haemorrhage. All 15 patients were aged over 40 years. ...

journal_title：Journal of neurology

authors： Cohn DF,Avrahami E

更新日期：1983-01-01 00:00:00

abstract：:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...

journal_title：Journal of neurology

authors： Panas M,Kalfakis N,Karadima G,Davaki P,Vassilopoulos D

更新日期：2002-11-01 00:00:00

abstract：:The electrically elicited blink reflex was investigated in 25 patients with ischaemic lesions of the pons or the medulla oblongata. Only patients with a lesion on MRI appropriate to the clinical syndrome were included. Twenty patients had an infarction of the pons, bilateral in 5. Additional 5 patients had an infarcti...

journal_title：Journal of neurology

authors： Meincke U,Ferbert A

更新日期：1993-11-01 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：:Behçet's disease is a multisystem inflammatory disorder with unknown aetiology. It is a disease of young adults with a more severe course in males subjects. Its prevalence is high in the Mediterranean basin and Japan and has been linked with human leucocyte antigen B5 (HLA-B5) in those countries. According to the diag...

journal_title：Journal of neurology

authors： Serdaroğlu P

更新日期：1998-04-01 00:00:00

abstract：:Cerebral venous thrombosis (CVT) affects mainly working-aged individuals. Functional recovery after CVT is generally considered good with about 3/4 of patients achieving short-term independence. However, vascular events, long-term functional outcome, and employment after CVT remain poorly investigated. We identified c...

journal_title：Journal of neurology

authors： Hiltunen S,Putaala J,Haapaniemi E,Tatlisumak T

更新日期：2016-03-01 00:00:00

abstract：:The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of neurological abnormalities associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners. Forty-eight subjects confirmed by genet...

journal_title：Journal of neurology

authors： Rance G,Kearns LS,Tan J,Gravina A,Rosenfeld L,Henley L,Carew P,Graydon K,O'Hare F,Mackey DA

更新日期：2012-03-01 00:00:00

abstract：:We examined the peripheral nervous system (PNS) (nerve conduction velocity (NCV)) and the central nervous system (CNS) (basal ganglia-mediated psychomotor speed) in 93 males seropositive for human immunodeficiency virus type 1 (HIV-1) with no prior history of opportunistic brain disease, antiretroviral treatment or in...

journal_title：Journal of neurology

authors： von Giesen HJ,Köller H,Hefter H,Arendt G

更新日期：2002-06-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Considerable studies have reported inconsistent relationships between ischemic stroke and a large number of factors. These uncertainties may reflect the susceptibility to confounding in observational studies. We aimed to assess genetic correlations and causal relationships between ischemic stroke...

journal_title：Journal of neurology

authors： Cai H,Cai B,Liu Z,Wu W,Chen D,Fang L,Chen L,Sun W,Liang J,Zhang H

更新日期：2020-07-01 00:00:00

abstract：:To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and c...

journal_title：Journal of neurology

authors： Numata Y,Gotoh L,Iwaki A,Kurosawa K,Takanashi J,Deguchi K,Yamamoto T,Osaka H,Inoue K

更新日期：2014-04-01 00:00:00