Abstract：
:Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has been the cause of sudden death. We examined nine CTX patients to determine whether they also had clinical or subclinical signs of cardiovascular disorders. In four of them, transthoracic echocardiography showed thickening of the interatrial septum compatible with lipomatous hypertrophy. The unexpected association of the two abnormalities is unlikely to be coincidental and suggests that careful cardiac examination should be considered, even in the absence of clinical manifestations.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Dotti MT,Mondillo S,Plewnia K,Agricola E,Federico Adoi
10.1007/s004150050274subject
Has Abstractpub_date
1998-11-01 00:00:00pages
723-6issue
11eissn
0340-5354issn
1432-1459journal_volume
245pub_type
杂志文章abstract：:Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherit...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7476-7
更新日期：2014-11-01 00:00:00
abstract：:A woman affected by chronic progressive external ophthalmoplegia and muscle mitochondrial DNA deletion was studied by phosphorus magnetic resonance spectroscopy (31P-MRS) prior to and after 1 and 7 months of treatment with oral lipoic acid. Before treatment a decreased phosphocreatine (PCr) content was found in the oc...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00873552
更新日期：1995-07-01 00:00:00
abstract：:We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal sinusitis. This syndrome shares severa...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7393-9
更新日期：2014-10-01 00:00:00
abstract：:Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an ...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s004150170241
更新日期：2001-02-01 00:00:00
abstract：:Secondary worsening of stroke symptoms is described in 13-37% of stroke patients, but the exact mechanism of this phenomenon remains unclear. The aim of this study is to find prognostic variables in correlation to secondary worsening of stroke symptoms in patients with lacunar or cortical strokes. In this prospective ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5577-5
更新日期：2010-09-01 00:00:00
abstract：:The diagnosis and management of lesions of the brachial roots and of the brachial plexus is improved by appropriate investigation, both in acute and chronic disorders. The choice of investigation should be determined by the clinical problem. Since they are relatively non-invasive, electrophysiological investigations a...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/BF00314416
更新日期：1986-06-01 00:00:00
abstract：:A boy was suspected of having meningoencephalitis probably of viral origin, although all microbiological, including virological, tests were negative. Postmortem examination revealed a dissecting aortic aneurysm and disseminated intravascular coagulation involving the central nervous system exclusively. The clinical ev...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313465
更新日期：1981-01-01 00:00:00
abstract：:In Huntington's disease (HD) atrophy of the caudate nucleus and putamen has been described many years before clinical manifestation. Volume changes of the pallidum, thalamus, brainstem, accumbens nucleus, hippocampus, and amygdala are less well investigated, or reported with contradicting results. The aim of our study...
journal_title：Journal of neurology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00415-010-5768-0
更新日期：2011-03-01 00:00:00
abstract：:Cerebral amyloid angiopathy (CAA) was found in 57% of 123 autopsy brains removed from patients aged 59-101 years. The incidence of CAA increased with age. CAA was seen most frequently in the occipital cortex. Immunohistochemically, amyloid of CAA was positive for amyloid P component and negative for human AA protein a...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314080
更新日期：1987-08-01 00:00:00
abstract：:Cognitive impairment belongs to the core symptoms in MS affecting quality of life, self-esteem, and social as well as occupational functioning. Due to this high impact on patients' well-being efficient treatment concepts are required. Imaging studies on cognition have shown that functional reorganisation takes place s...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-007-2013-6
更新日期：2007-05-01 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
pub_type： 杂志文章,评审
doi：10.1007/BF00939231
更新日期：1994-12-01 00:00:00
abstract：:Disability in multiple sclerosis (MS) patients is associated with white matter (WM) and gray matter (GM) pathology, and both processes contribute differently over the disease course. Total and regional GM volume loss can be imaged via voxel-based morphometry (VBM). Here, we retrospectively analyzed a group of 213 MS p...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8114-3
更新日期：2016-06-01 00:00:00
abstract：:Genetic evidence indicates a central role of cerebral accumulation of beta-amyloid (Abeta) in the pathogenesis of Alzheimer's disease (AD). Beside presenilin 1 and 2, three other recently discovered proteins (Aph 1, PEN 2 and nicastrin) are associated with gamma-secretase activity, the enzymatic complex generating Abe...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0799-7
更新日期：2005-09-01 00:00:00
abstract：:We examined the influence of alleles at the HLA loci, previously found to be associated with multiple sclerosis (MS) in Sardinia, on the clinical course of the disease in 835 relapsing (R) and 100 primary progressive (PP) patients. Multivariate analysis was carried out on predisposing 0301 or non-associated DPB1 allel...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0957-y
更新日期：2006-02-01 00:00:00
abstract：:This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-009-5208-1
更新日期：2009-11-01 00:00:00
abstract：BACKGROUND:The symptomatic treatment of myotonia and myalgia in patients with dystrophic and non-dystrophic myotonias is often not satisfactory. Some patients anecdotally report symptoms' relief through consumption of cannabis. METHODS:A combination of cannabidiol and tetrahydrocannabinol (CBD/THC) was prescribed as c...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09593-6
更新日期：2020-02-01 00:00:00
abstract：:Natalizumab, an anti-alpha4 integrin antibody, significantly reduces the number of visibly enhancing multiple sclerosis (MS) lesions. In this substudy of a 2-year trial of natalizumab monotherapy versus placebo, contrast-enhanced imaging investigated for subtle blood brain barrier (BBB) leakage in relapsing remitting ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1007/s00415-006-0356-z
更新日期：2007-03-01 00:00:00
abstract：:A spontaneous dissecting aneurysm of the intracranial portion of the dominant right vertebral artery presented as massive subarachnoid hemorrhage, excruciating headache, and respiratory arrest in a 57-year-old white man with a history of systemic hypertension. He died on the 3rd day. Postmortem examination revealed a ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313594
更新日期：1983-01-01 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
pub_type： 杂志文章
doi：10.1007/BF00863771
更新日期：1994-02-01 00:00:00
abstract：:A 23-year-old woman had progressive right hemiparesis followed by spontaneous clinical remission. The clinical profile and multifocal contrast-enhancing CT lesions in the periventricular region of the cerebrum favored the diagnosis of an acute demyelinating process. Serial examinations showed resolution of CT abnormal...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313759
更新日期：1982-01-01 00:00:00
abstract：:A method for the preparation of a potent and specific peroxidase-labelled antihuman IgG antibody is described. CSF cells from patients with various neurological diseases were stained. Only in cases of inflammatory diseases was IgG detectable. The stained cells were so-called lymphoid cells. As the demonstrable IgG can...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313346
更新日期：1980-01-01 00:00:00
abstract：:Small retrospective case series suggest that decompressive hemicraniectomy can be life saving in patients with cerebral venous thrombosis (CVT) and impending brain herniation. Prospective studies of consecutive cases are lacking. Thus, a single centre, prospective study was performed. In 2006 we adapted our protocol f...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-011-6307-3
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:Despite advances in the field, diagnosis and management of the wide spectrum of neurological events post allogeneic hematopoietic cell transplantation (alloHCT) remain challenging. Therefore, we investigated their incidence, diagnosis, management and long-term prognosis in alloHCT recipients. METHODS:We ret...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09372-3
更新日期：2019-08-01 00:00:00
abstract：:Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-008-0847-1
更新日期：2008-07-01 00:00:00
abstract：BACKGROUND:Myelin oligodendrocyte glycoprotein immunoglobulin G associated optic neuritis (MOG-ON) is a recently described entity. Recent studies have shown that MOG-ON has a more severe clinical presentation than classic optic neuritis (ON). OBJECTIVE:This study aimed to define morphological characteristics of MOG-ON...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10097-x
更新日期：2021-01-01 00:00:00
abstract：:Migraine is a common and disabling nervous system disease with a significant genetic predisposition. The sex hormones play an important role in the pathogenesis of migraine. However, the conclusions of the previous genetic relation studies are conflicting. The aim of this study is to determine whether variants in gene...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8321-y
更新日期：2017-01-01 00:00:00
abstract：:It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that ...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-015-7682-y
更新日期：2015-03-01 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
pub_type： 杂志文章,评审
doi：10.1007/s00415-015-7825-1
更新日期：2015-12-01 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
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s00415-016-8345-3
更新日期：2017-08-01 00:00:00
abstract：:Brains from 54 patients with organic dementia were examined systematically. As in previous investigations a predominance of Alzheimer type changes was observed. Seventeen patients showed Lewy bodies in the nucleus basalis, the substantia nigra and the locus coeruleus as well as other lesions of parkinsonian type. In 5...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313858
更新日期：1986-04-01 00:00:00
