Abstract：
:A linkage and association of the CD45 (protein-tyrosine phosphatase, receptor-type C) C77G polymorphism and multiple sclerosis (MS) has been found in some studies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the transmission disequilibrium test, the mutation has been sought in 241 patients and 217 healthy sibs (HS) from singleton MS families and it was found in 5 (2.07 %) affected and 3 (1.38%) HS from 7 heterozygous parents (1.45 %). Transmission of the G77 allele was 71.4 % (TDT = 1.3, P = 0.26) in patients and 50% (TDT = 0, P = 1) in HS. Stratifying families according to carriage of MS-predisposing (DR+) or not-predisposing (DR-) HLA-DR-DQ genotype in patients, percentage of G77 transmission to DR+ patients was 33 (TDT = 0.33, P = 0.56, Pc = 1.12), while it was 100 (TDT = 4, P = 0.045, Pc = 0.09) in the DR-patients. We concluded that, despite the presence of CD45 G77 polymorphism in a few patients who did not carry the HLADR- DQ MS-predisposing molecules, CD45 did not contribute to development of the disease in Sardinian MS.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Cocco E,Murru MR,Melis C,Schirru L,Solla E,Lai M,Rolesu M,Marrosu MGdoi
10.1007/s00415-004-0485-1keywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
1085-8issue
9eissn
0340-5354issn
1432-1459journal_volume
251pub_type
杂志文章abstract：:Our knowledge of the vestibular sensory system, its functional significance for gaze and posture stabilization, and its capability to ensure accurate spatial orientation perception and spatial navigation has greatly benefitted from experimental approaches using a variety of vertebrate species. This review summarizes t...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-015-7909-y
更新日期：2016-04-01 00:00:00
abstract：OBJECTIVES:There are varying reports on whether monoclonal gammopathy of undetermined significance-associated neuropathy (MGUSN) patients are distinguishable from those with chronic inflammatory demyelinating polyneuropathy (CIDP) and whether specific MGUSN subclasses are associated with specific clinical phenotypes. ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7357-0
更新日期：2014-08-01 00:00:00
abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5471-1
更新日期：2010-07-01 00:00:00
abstract：:Movement-associated cortical potentials (MP) associated with thumb-opposition or fist-clenching were studied in 20 patients with unilateral cerebral lesions and in 8 healthy subjects. MP was abnormal in 16 patients. The most frequent abnormality was an attenuation of the N component or readiness potential, recorded on...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00312541
更新日期：1975-07-02 00:00:00
abstract：:X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal axonopathy (non-cerebral cases). Specific ABCD1 defects do not explai...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-011-6371-8
更新日期：2012-07-01 00:00:00
abstract：:DWI has been described in some reports to be superior to FLAIR in early stage herpes simple virus encephalitis (HSE). Few data exist on detailed topographical MRI analysis in HSE. Our aim was to study DWI and FLAIR, and analyse topographically these sequences in non-neonatal HSE patients with MRI performed within 60 d...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-015-7818-0
更新日期：2015-09-01 00:00:00
abstract：OBJECTIVE:To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS:We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and a...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-9037-y
更新日期：2018-11-01 00:00:00
abstract：:The purpose of this study was to evaluate the contribution of posterior circulation to memory function by comparing memory scores between patients with and without a foetal-type posterior cerebral artery (FTP) during the intracarotid amobarbital procedure (IAP) in epilepsy patients. Patients undergoing bilateral IAP b...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-011-6391-4
更新日期：2012-08-01 00:00:00
abstract：:Multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system (CNS), 2 results in damage to axons and their surrounding myelin sheath. The exact cause of inflammation remains unclear, but an autoimmune response directed against CNS antigens is suspected. MS can affect the brain, optic nerve an...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-004-1504-y
更新日期：2004-09-01 00:00:00
abstract：:In all the sera of four patients with meningoradiculitis of Bannwarth admitted to the neurological department of the University Clinic Grosshadern in Munich in 1983, we found antibodies against Ixodes dammini spirochetes. In three patients antibodies were also present in the CSF. In one patient, we isolated spirochete...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313682
更新日期：1984-01-01 00:00:00
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...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150050274
更新日期：1998-11-01 00:00:00
abstract：:Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-011-6028-7
更新日期：2011-10-01 00:00:00
abstract：:Vitamin B(12) (VitB(12), cobalamin) deficiency has been associated with various neuropsychiatric conditions, such as peripheral neuropathy, subacute combined degeneration, affective disorders, and cognitive impairment. Current assays analyze vitamin B(12), of which only a small percentage is metabolically active. Meas...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5764-4
更新日期：2011-03-01 00:00:00
abstract：:Even though trigeminovestibular connections are well established in animals, mastication-induced dizziness has been described only as a vascular steal phenomenon in humans. We determined induction or modulation of nystagmus in two index patients with mastication-induced vertigo, 12 normal controls, and 52 additional p...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-013-7221-7
更新日期：2014-03-01 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
pub_type： 杂志文章
doi：10.1007/BF00314163
更新日期：1986-10-01 00:00:00
abstract：:Post-concussion symptoms (PCS) (such as headaches, irritability, anxiety, dizziness, fatigue and impaired concentration) are frequently experienced by patients who have sustained a minor head injury (MHI). The post-concussion syndrome has been defined as a clinical state where 3 or more symptoms persist for more than ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s004150050254
更新日期：1998-09-01 00:00:00
abstract：:Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-003-0995-2
更新日期：2003-03-01 00:00:00
abstract：:Clinical diagnosis of amyotrophic lateral sclerosis (ALS) in patients presenting with cramps and fasciculations may not be evident at the first consultation. Sequential reviews, clinical and neurophysiological, form an important part of clinical practice in such cases. Recent attempts to delineate a more benign group ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5791-1
更新日期：2011-04-01 00:00:00
abstract：BACKGROUND:Stroke has a major impact on survivors. Our study was designed to describe the mental status and health-related quality of life (HRQoL) in long-term survivors of TIA or minor ischaemic stroke (MIS) and evaluate associations of mental and physical factors with HR-QoL. METHODS:A random sample of the 10-year s...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0480-9
更新日期：2007-08-01 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
pub_type： 杂志文章
doi：10.1007/BF00313874
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:Alzheimer's disease (AD) leads to a degeneration of the nucleus basalis of Meynert and thus to decreased cholinergic tonus in the brain. The transcription of endothelial nitric oxide synthase depends on an adequate cholinergic innervation of microvessels and vasoregulative abnormalities have been reported in...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s00415-005-0926-5
更新日期：2006-01-01 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
pub_type： 杂志文章
doi：10.1007/BF00839145
更新日期：1992-04-01 00:00:00
abstract：:A retrospective study was performed to investigate seasonal variation in stroke incidence and to evaluate the hypothesis that cold might be a risk factor. Data were obtained from the central registry of the Hospital de S. João, Porto, Portugal, concerning 4048 patients consecutively admitted for cerebrovascular diseas...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00919594
更新日期：1995-03-01 00:00:00
abstract：OBJECTIVES:Lumbar spondylosis (LS) is a common spinal degenerative disorder which causes various types of lower urinary tract dysfunction (LUTD). However, it is not certain whether LS may cause urinary retention in elderly women. METHODS:In a period covering the past 3 years, we retrospectively reviewed: a) urodynamic...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0790-3
更新日期：2005-08-01 00:00:00
abstract：:A 57-year-old male was repeatedly admitted to hospital because of complex neurological symptoms, including radicular pain, disturbance of micturition, seizures, and severely impaired mental state. The diagnosis was encephalomyeloradiculitis possibly of viral origin, and treatment with immunosuppressants was initiated....
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314303
更新日期：1988-01-01 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：:A rare form of plasma cell dyscrasia characterized by associated polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes has been termed the POEMS syndrome. The pathophysiology is unknown; plasma cell dyscrasia is essential; secondary manifestations are unexplained. We report a 67-year-old man with a ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00839213
更新日期：1992-01-01 00:00:00
abstract：:Circulating and cerebrospinal fluid (CSF) neurofilament light chain (NfL) levels represent a reliable indicator of disease activity and axonal damage in different neuroinflammatory conditions. Recently, high CSF NfL levels have been detected in active autoimmune encephalitis, as opposed to significant lower levels aft...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09306-z
更新日期：2019-07-01 00:00:00
abstract：:Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. Our understanding of the mechanisms leading to the clinical deficits has improved over these last decades, in particular thanks to progress in genetics, neuroimaging and ...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-020-09717-3
更新日期：2020-04-01 00:00:00
abstract：:The prevalence of clinical and electrophysiological signs of peripheral nerve disease was evaluated in 151 patients with chronic obstructive pulmonary disease. Patients with concomitant disorders affecting the peripheral nervous system were excluded. Thirty patients had clinical signs of a mild sensorimotor and distal...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314624
更新日期：1990-07-01 00:00:00
