Abstract：
:Cortical tubers are very common in tuberous sclerosis complex (TSC) and widely vary in size, appearance and location. The relationship between tuber features and clinical phenotype is unclear. The aim of the study is to propose a classification of tuber types along a spectrum of severity, using magnetic resonance imaging (MRI) characteristics in 35 patients with TSC and history of epilepsy, and to investigate the relationship between tuber types and genetics, as well as clinical manifestations. Three types of tubers were identified based on the MRI signal intensity of their subcortical white matter component. (1) Tubers Type A are isointense on volumetric T1 images and subtly hyperintense on T2 weighted and fluid-attenuated inversion recovery (FLAIR); (2) Type B are hypointense on volumetric T1 images and homogeneously hyperintense on T2 weighted and FLAIR; (3) Type C are hypointense on volumetric T1 images, hyperintense on T2 weighted, and heterogeneous on FLAIR characterized by a hypointense central region surrounded by a hyperintense rim. Based on the dominant tuber type present, three distinct patient groups were also identified: Patients with Type A tuber dominance have a milder phenotype. Patients with Type C tuber dominance have more MRI abnormalities such as subependymal giant cell tumors, and were more likely to have an autism spectrum disorder, a history of infantile spasms, and a higher frequency of epileptic seizures, compared to patients who have a dominance in Type B tubers, and especially to those with a Type A dominance.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Gallagher A,Grant EP,Madan N,Jarrett DY,Lyczkowski DA,Thiele EAdoi
10.1007/s00415-010-5535-2subject
Has Abstractpub_date
2010-08-01 00:00:00pages
1373-81issue
8eissn
0340-5354issn
1432-1459journal_volume
257pub_type
杂志文章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
pub_type： 杂志文章
doi：10.1007/s00415-002-0745-x
更新日期：2002-07-01 00:00:00
abstract：:Discontinuation of natalizumab can lead to severe rebound of disease activity in patients with relapsing-remitting multiple sclerosis (RRMS); nevertheless, the treatment regimen in this clinical situation remains controversial. We report the case of a 25-year-old male patient with RRMS who was clinically stable under ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8622-9
更新日期：2017-12-01 00:00:00
abstract：:Fatigue is an important contributor to quality of life in patients who survive aneurysmal subarachnoid hemorrhage (SAH), but the determinants of this fatigue are unclear. We assessed the occurrence of fatigue 1 year after SAH and its relation to physical or cognitive impairment, passive coping, and emotional problems,...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5891-y
更新日期：2011-06-01 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：:Relapses are a characteristic clinical feature of multiple sclerosis (MS), but an appreciation of factors that cause them remains elusive. In this study, we have examined seasonal variation of relapse in a large population-based MS cohort and correlated observed patterns with age, sex, disease course, and climatic fac...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8485-0
更新日期：2017-06-01 00:00:00
abstract：:Cerebral atrophy calculated from serial MRI is a marker of Alzheimer's disease (AD) progression, and a potential outcome measure for therapeutic trials. Reducing within-subject variability in cerebral atrophy rates by acquiring more than two serial scans could allow for shorter clinical trials requiring smaller patien...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0173-4
更新日期：2006-09-01 00:00:00
abstract：:Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing s...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0768-1
更新日期：2005-08-01 00:00:00
abstract：BACKGROUND:Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce. METHODS:We evaluated the effectiveness and safety of nusinersen treatment during 14 months in 16 adult patients with SMA types 3 and ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10223-9
更新日期：2020-09-15 00:00:00
abstract：:Somatostatin levels were measured in cerebrospinal fluid of patients with Alzheimer's disease, multi-infarct dementia and normal pressure hydrocephalus and compared with levels from a normal control group. All pathological groups showed a statistically significant decrease of somatostatin with respect to the control g...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00319684
更新日期：1991-06-01 00:00:00
abstract：BACKGROUND:Progression of parkinsonian motor impairment is usually rapid and relentless in multiple system atrophy (MSA). However, it may also be subject to considerable variation. Prospective natural history studies using validated rating scales are required to accurately determine the progression of parkinsonism in M...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0617-2
更新日期：2005-01-01 00:00:00
abstract：:A patient with chronic relapsing inflammatory demyelinating polyneuropathy was successfully treated with plasma exchanges and cyclosporin A (CsA). Dynamometric measurements of hand force during the time of CsA treatment showed a highly significant correlation between hand force and CsA blood levels. The largest influe...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314752
更新日期：1990-08-01 00:00:00
abstract：:Different physiological mechanisms of facilitation of latencies and amplitudes of magnetic motor evoked potentials (MEPs) were evaluated in a cohort of 140 healthy volunteers. The potentials were induced at the vertex and recorded at the abductor pollicis brevis. The aim of the present investigation was to compare phy...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314732
更新日期：1990-11-01 00:00:00
abstract：:A clinical and electrophological study was performed on 30 patients with chronic carbon disulphide poisoning. Although the measurements of motor conduction velocity and of terminal latency were within the normal range in the subclinical stage, estimation of nerve excitability threshold showed distal motor hypoexcitabi...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313208
更新日期：1980-01-01 00:00:00
abstract：:Electrophysiological findings in 40 cases of non-progressive myopathies are reported, and compared with a group of 20 cases of Duchenne progressive muscular dystrophy and a control group. In all cases the electrophysiological changes were of the mild s. c. myogenic type. The involvement of proximal and distal muscles ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313234
更新日期：1976-02-13 00:00:00
abstract：:Little is known about the pattern of subacute cognitive domain impairments after ischaemic stroke, nor the temporal evolution of such impairments. Our objective was to investigate the pattern of cognitive impairment in different neuropsychological domains up to a year after ischaemic stroke. We included prospectively ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-012-6625-0
更新日期：2013-01-01 00:00:00
abstract：:Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. Clinical, laboratory, and genetic studies were performed in three family members. The proband's symp...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7441-5
更新日期：2014-10-01 00:00:00
abstract：BACKGROUND:The nonischemic forearm exercise test (NIFET) has been shown to be as effective as the classic ischemic forearm exercise test (IFET) in the diagnosis of patients with McArdle disease. Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate s...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s00415-006-0101-7
更新日期：2006-06-01 00:00:00
abstract：:A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00312870
更新日期：1976-01-01 00:00:00
abstract：OBJECTIVE:Gluten neuropathy (GN) is the term used to describe peripheral neuropathy that occurs in patients with gluten sensitivity (GS) or coeliac disease (CD) in the absence of other risk factors. We aimed to describe the neurophysiological progression rate of GN across time and look into the potential role of geneti...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10137-6
更新日期：2021-01-01 00:00:00
abstract：:Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150200069
更新日期：2002-05-01 00:00:00
abstract：:Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phen...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8036-0
更新日期：2016-04-01 00:00:00
abstract：: ...
journal_title：Journal of neurology
pub_type： 信件
doi：10.1007/s00415-018-9066-6
更新日期：2018-12-01 00:00:00
abstract：:Ten female patients suffering from catamenial epilepsy were treated with a synthetic analogue of the gonadotrophin releasing hormone (GnRH) in addition to antiepileptic drugs. Three of the patients became seizure free, in four patients seizure frequency decreased and in one patient seizures were of shorter duration. I...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00810354
更新日期：1992-05-01 00:00:00
abstract：:Sensory trick may relieve dystonic symptoms in patients with idiopathic cervical dystonia (CD). We investigated the patterns of brain functional MRI (fMRI) during resting state, sensory trick simulation and sensory trick imagination in CD patients both with and without an effective sensory trick. We recruited 17 CD pa...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09683-5
更新日期：2020-04-01 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：: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：:Rituximab, a monoclonal antibody to CD20, is an effective treatment for relapsing remitting multiple sclerosis (MS) reducing relapse rate by at least 50% over time. Although the mechanism for this clinical benefit is unclear, rituximab depletes circulating B cells, which can perform antigen presentation and stimulatio...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-8996-3
更新日期：2018-10-01 00:00:00
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
doi：10.1007/s00415-006-0111-5
更新日期：2006-06-01 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
abstract：:Cobrotoxin-binding protein was isolated by affinity chromatography from human thymoma which had been surgically removed from patients with myasthenia gravis. The protein was composed of polypeptides with a molecular mass of 40, 51, 65, and 74 kilodaltons as determined by polyacrylamide gel electrophoresis in the prese...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00618251
更新日期：1987-05-01 00:00:00
