Abstract:
:We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Lossos A,Ben-Hur T,Ben-Nariah Z,Enk C,Gomori M,Soffer Ddoi
10.1007/BF00936890subject
Has Abstractpub_date
1995-02-01 00:00:00pages
164-8issue
3eissn
0340-5354issn
1432-1459journal_volume
242pub_type
杂志文章abstract::Infectious agents have been proposed as potential causes of Alzheimer's disease (AD). Recently, we documented a high prevalence of Helicobacter pylori (Hp) infection in patients with AD. We aim to access the effect of Hp eradication on the AD cognitive (MMSE: Mini Mental State Examination and CAMCOG: Cambridge Cogniti...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-009-5011-z
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abstract::Nerve conduction studies (NCS) and electromyography (EMG), often shortened to 'EMGs', are a useful adjunct to clinical examination of the peripheral nervous system and striated skeletal muscle. NCS provide an efficient and rapid method of quantifying nerve conduction velocity (CV) and the amplitude of both sensory ner...
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更新日期:2010-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/BF00313005
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abstract::The International Cooperative Ataxia Rating Scale (ICARS) is a 100-point semiquantitative scale designed primarily to assess cerebellar dysfunction. However, little is known of the metric properties of this scale. We assessed the ICARS by rating the severity of cerebellar dysfunction in 27 patients with spinocerebella...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0310-0
更新日期:2007-06-01 00:00:00
abstract::A major challenge in the diagnosis of disorders of consciousness is the differential diagnosis between the vegetative state (VS) and the minimally conscious state (MCS). Clinically, VS is defined by complete unawareness, whereas MCS is defined by the presence of inconsistent but clearly discernible behavioural signs o...
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更新日期:2013-04-01 00:00:00
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更新日期:2006-12-01 00:00:00
abstract:OBJECTIVE:To characterize the progression of the cognitive involvement in patients affected by myotonic dystrophy type 1 (DM1) by a longitudinal neuropsychological follow-up study. METHODS:In a previous study we documented an ageing-related decline of frontal and temporal cognitive functions in juvenile/adult forms of...
journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:2008-11-01 00:00:00
abstract::We report two adult Japanese sisters with L-2-hydroxy-glutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity. Magnetic resonance imaging revealed typical subcortical white matter lesi...
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更新日期:1999-05-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
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更新日期:2017-08-01 00:00:00
abstract:AIMS:To investigate the occurrence of symptomatic peroneal neuropathy (PN) in cancer patients, as well as that of cancer in PN patients and to seek possible factors in the aetiology of PN. METHODS:Clinical, neurographical, and myographical data of patients with PN, in two general neurology clinics during a 5-year peri...
journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:1997-05-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10278-8
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:Delayed ischaemic neurological deficit (DID) following subarachnoid haemorrhage from aneurysm rupture (aSAH) is a serious complication and a major cause of mortality and morbidity. No empirical estimates of resource use and costs of patients with delayed ischaemic deficit compared to those without have been ...
journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:2009-03-01 00:00:00
abstract::Evidence of a significant improvement of IFNB-1b in clinical severity in the older population with RRMS has not been established so far. The aim of this exploratory post hoc analysis of the 250 mcg IFNB-1b group of the BEYOND study is to compare the efficacy and safety of older versus younger patients using a cut-off ...
journal_title:Journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00415-013-6888-0
更新日期:2013-07-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
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更新日期:1998-08-01 00:00:00
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更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE:(1) To determine the frequency and characteristics of thymoma-associated PDs other than M...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0429-z
更新日期:2007-06-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-09943-9
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abstract::Myotonic Dystrophy Type 1 (DM1) and 2 (DM2) present with distinct though overlapping clinical phenotypes. Comparative imaging data on skeletal muscle involvement are not at present available. We used the novel technique of whole body 3.0 Tesla (T) Magnetic Resonance Imaging (MRI) to further characterize musculoskeleta...
journal_title:Journal of neurology
pub_type: 杂志文章
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journal_title:Journal of neurology
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更新日期:2004-11-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
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pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章
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更新日期:2021-01-01 00:00:00