Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

abstract：OBJECTIVES:The aim of this study was to identify clinical, magnetic resonance imaging (MRI) and biological markers predictive of long-term clinical response to interferon beta (IFN beta) therapy in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:Sixty-eight patients treated with IFN beta were foll...

journal_title：Journal of neurology

authors： Tomassini V,Paolillo A,Russo P,Giugni E,Prosperini L,Gasperini C,Antonelli G,Bastianello S,Pozzilli C

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVE:A growing number of studies have been conducted on the relationship between anger and hostility and the risk of stroke, and their conclusions are not consistent. Accordingly, we performed a meta-analysis to evaluate the relationship between anger and hostility and the risk of stroke. METHODS:We searched the ...

journal_title：Journal of neurology

authors： Chen H,Zhang B,Xue W,Li J,Li Y,Fu K,Chen X,Sun M,Shi H,Tian L,Teng W

更新日期：2019-04-01 00:00:00

abstract：:Posterior leukoencephalopathy typically denotes neurotoxicity from immunosuppressive agents, malignant hypertension or eclampsia. It has not been documented in central nervous system angiitis. We present three cases associated with isolated cerebral angiitis after review of all cases of isolated CNS angiitis from 1998...

journal_title：Journal of neurology

authors： Wijdicks EF,Manno EM,Fulgham JR,Giannini C

更新日期：2003-04-01 00:00:00

abstract：:5-Hydroxytryptamine (5-HT; serotonin) has long been implicated in the aetiology of migraine but the evidence remains circumstantial and certainly not definitive. Numerous papers have reviewed the background which is briefly outlined here. Although the continued belief in the primary involvement of 5-HT in the genesis ...

journal_title：Journal of neurology

authors： Humphrey PP

更新日期：1991-01-01 00:00:00

abstract：:Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are often clinically confused with each other. Moreover, the discrepancy between clinical and pathological diagnoses of CBD and PSP are still controversial. We report here two atypical cases of PSP and CBD. A 73-year old woman was admitted with r...

journal_title：Journal of neurology

authors： Mizuno T,Shiga K,Nakata Y,Nagura J,Nakase T,Ueda Y,Takanashi Y,Urasaki K,Oyamada Y,Fushiki S,Nishikawa J,Yasuhara M,Nakajima K,Nakagawa M

更新日期：2005-06-01 00:00:00

abstract：:Polymerase chain reaction (PCR) based automated high-resolution fragment analysis of rearranged immunoglobulin heavy-chain genes is a highly sensitive means for identifying clonal B-cell responses. We used this technique to distinguish polyclonal inflammatory from monoclonal neoplastic B-cell populations in the cerebr...

journal_title：Journal of neurology

authors： Wildemann B,Jansen O,Haas J,Vogt-Schaden ME,Storch-Hagenlocher B

更新日期：2001-02-01 00:00:00

abstract：BACKGROUND:Ultrafast brain MRI is required for uncooperative patients and time-critical diseases such as stroke because it reduces scan times and motion artifacts. This study investigated the clinical feasibility of a 1-min ultrafast brain MRI protocol for detecting intracranial abnormalities in restless and uncooperat...

journal_title：Journal of neurology

authors： Ryu KH,Choi DS,Baek HJ,Cho SB,Ha JY,Kim TB,Hwang MJ

更新日期：2019-02-01 00:00:00

abstract：:Thyronine (T4), triiodothyronine (T3), and reverse-triiodothyronine (rT3) levels were evaluated in cerebrospinal fluid (CSF) and in serum of 12 patients with definite amyotrophic lateral sclerosis (ALS) by specific radioimmunoassays. Circulating microsomal and thyroglobulin antibodies were also evaluated. In all patie...

journal_title：Journal of neurology

authors： Malin JP,Ködding R,Fuhrmann H,von zur Mühlen A

更新日期：1989-01-01 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

authors： Swash M

更新日期：1986-06-01 00:00:00

abstract：:In this study of patients with spontaneous cervical artery dissections (sCAD) we searched for mutations in ABCC6, the candidate gene for Pseudoxanthoma elasticum (PXE). Genomic DNA samples from 12 sCAD patients with pronounced electron microscopic alterations in their dermal connective tissue and from 2 patients with ...

journal_title：Journal of neurology

authors： Morcher M,Hausser I,Brandt T,Grond-Ginsbach C

更新日期：2003-08-01 00:00:00

abstract：:Neuropsychological deficits and the relationship to brain pathology were examined in 13 primary progressive (PP) and 12 secondary progressive (SP) multiple sclerosis patients with a similar duration of the progressive phase and comparable physical disability. A battery of neuropsychological tests to assess attention, ...

journal_title：Journal of neurology

authors： Foong J,Rozewicz L,Chong WK,Thompson AJ,Miller DH,Ron MA

更新日期：2000-02-01 00:00:00

abstract：:Both neurologists and urologists might encounter patients with acute urinary retention due to benign inflammatory nervous diseases. Based on the mechanism of urinary retention, these disorders can be divided into two subgroups: disorders of the peripheral nervous system (e.g., sacral herpes) or the central nervous sys...

journal_title：Journal of neurology

authors： Sakakibara R,Yamanishi T,Uchiyama T,Hattori T

更新日期：2006-08-01 00:00:00

abstract：:Based on the observation of bilateral temporoparietal hypoperfusion in Alzheimer's disease (AD), single photon emission computed tomography (SPECT) is advocated by some as a powerful diagnostic tool in the evaluation of demented patients. We studied whether routine brain SPECT in elderly, mildly demented outpatients i...

journal_title：Journal of neurology

authors： Van Gool WA,Walstra GJ,Teunisse S,Van der Zant FM,Weinstein HC,Van Royen EA

更新日期：1995-06-01 00:00:00

abstract：OBJECTIVE:In order to define the predictors of prolonged survival available at the time of first examination we performed a historical cohort study of amyotrophis sclerosis (ALS) patients referred to our ALS Clinic over the last 20 years. METHODS:In a group of 1034 patients with the diagnosis of definite or probable A...

journal_title：Journal of neurology

authors： Czaplinski A,Yen AA,Appel SH

更新日期：2006-11-01 00:00:00

abstract：:Unilateral mesial temporal lobe epilepsy (MTLE) has been associated with reduced amygdala responsiveness to fearful faces. However, the effect of unilateral MTLE on empathy-related brain responses in extra-amygdalar regions has not been investigated. Using functional magnetic resonance imaging, we measured empathy-rel...

journal_title：Journal of neurology

authors： Toller G,Adhimoolam B,Grunwald T,Huppertz HJ,Kurthen M,Rankin KP,Jokeit H

更新日期：2015-03-01 00:00:00

abstract：:Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur, and as such might be prognostic of short survival. The purpose of this study was to investigate the prognostic value of a decreased TS, in addition to other pro...

journal_title：Journal of neurology

authors： Weikamp JG,Schelhaas HJ,Hendriks JC,de Swart BJ,Geurts AC

更新日期：2012-11-01 00:00:00

abstract：:We report two cases of unilateral spatial neglect associated with an isolated right frontal lobe lesion. Case 1 was a 59-year-old, right-handed man, who developed a left hemiplegia, disorientation, and frontal lobe neglect associated with a haemorrhagic contusion following a head injury. Case 2 was a 55-year-old, righ...

journal_title：Journal of neurology

authors： Maeshima S,Terada T,Nakai K,Nishibayashi H,Ozaki F,Itakura T,Komai N

更新日期：1995-10-01 00:00:00

abstract：OBJECTIVE:Five different calliper methods for assessing the degree of carotid artery stenosis and visual estimation ("eyeballing") of postmortem carotid arteriograms were compared with the planimetric gold standard of the area reduction at the site of the stenosis. METHODS:During autopsy 53 carotid specimens were remo...

journal_title：Journal of neurology

authors： Schulte-Altedorneburg G,Droste DW,Kollár J,Beyna T,Felszeghy S,Módis L,Hegedüs C,Ringelstein EB,Csiba L

更新日期：2005-05-01 00:00:00

abstract：BACKGROUND:Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematica...

journal_title：Journal of neurology

authors： Karam C,Dimitrova D,Yutan E,Chahin N

更新日期：2019-10-01 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

authors： Crosti F,Armanini M,Confalonieri P,Antozzi C,Mantegazza R

更新日期：1994-02-01 00:00:00

abstract：:Biomarkers beyond clinical assessment are needed in patients who suffer from amyotrophic lateral sclerosis (ALS). Here, single-voxel proton magnetic resonance spectroscopy ((1)H MRS) of the gray matter of the motor cortex and the white matter including the pyramidal tracts was used to investigate concentrations of N-a...

journal_title：Journal of neurology

authors： Unrath A,Ludolph AC,Kassubek J

更新日期：2007-08-01 00:00:00

abstract：OBJECTIVE:Patient reported outcome measures (PROMs) can provide researchers with a direct view of patients' experiences. They are becoming increasingly important tools for evaluating clinical care and research outcomes. There has been little data on the application of PROMs to amyotrophic lateral sclerosis (ALS) care. ...

journal_title：Journal of neurology

authors： De Marchi F,Berry JD,Chan J,Caldwell S,Ellrodt A,Scalia J,Burke K,Fang T,Clark Sisodia R,Schwamm LH,Moura LMVR,Paganoni S

更新日期：2020-06-01 00:00:00

abstract：:Cognitive deficits mainly involving visuospatial functions have been defined in patients with bilateral and even unilateral vestibular loss (UVL). We compared the cognitive test results of 21 patients with acute UVL with age- and education-matched healthy controls. The diagnosis of UVL was based on the clinical findin...

journal_title：Journal of neurology

authors： Ayar DA,Kumral E,Celebisoy N

更新日期：2020-12-01 00:00:00

abstract：:Recent years have seen substantial news and updates in the genetics and diagnosis of schwannomas, even a new hereditary disease with schwannomas; Schwannomatosis has been defined. These developments have consequently led to better evaluation of the incidence of schwannomas. Although there has also been progress in the...

journal_title：Journal of neurology

authors： Hanemann CO,Evans DG

更新日期：2006-12-01 00:00:00

abstract：:Levodopa treatment does improve Parkinson's disease (PD) dysgraphia, but previous research is not in agreement about which aspects are most responsive. This study investigated the effect of levodopa on the kinematics of writing. Twenty-four patients with PD of less than 10 years duration and 25 age-matched controls we...

journal_title：Journal of neurology

authors： Zham P,Kumar D,Viswanthan R,Wong K,Nagao KJ,Arjunan SP,Raghav S,Kempster P

更新日期：2019-06-01 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：BACKGROUND:Recent research has convincingly shown that the ability to work mainly depends on the cognitive status in multiple sclerosis (MS). An international committee of experts recommended a brief neuropsychological battery to evaluate cognitive performance in MS. BICAMS comprises three tests, the Symbol Digit Modal...

journal_title：Journal of neurology

authors： Filser M,Schreiber H,Pöttgen J,Ullrich S,Lang M,Penner IK

更新日期：2018-11-01 00:00:00

abstract：OBJECTIVE:To assess the changes of muscle-related biomarkers at the early stage of amyotrophic lateral sclerosis, and to confirm these findings in an experimental animal model. METHODS:Thirty-nine subjects with sporadic amyotrophic lateral sclerosis and 20 healthy controls were enrolled and longitudinally evaluated. W...

journal_title：Journal of neurology

authors： Ito D,Hashizume A,Hijikata Y,Yamada S,Iguchi Y,Iida M,Kishimoto Y,Moriyoshi H,Hirakawa A,Katsuno M

更新日期：2019-12-01 00:00:00

abstract：:The diagnosis of natalizumab-associated progressive multifocal leukoencephalopathy (PML) in multiple sclerosis patients in an asymptomatic stage is crucial since it is associated with better clinical outcome measures. Current diagnostic criteria on PML diagnosis in asymptomatic patients require the detection of JC vir...

journal_title：Journal of neurology

authors： Wattjes MP,Vennegoor A,Mostert J,van Oosten BW,Barkhof F,Killestein J

更新日期：2014-06-01 00:00:00

abstract：:Uric acid (UA) is reduced in multiple sclerosis (MS), and possibly relates to MS outcomes, with lower UA levels in subjects experiencing a relapse or presenting higher disability scores. The present retrospective longitudinal study evaluated UA variations in MS, in relation to clinical relapses, disability progression...

journal_title：Journal of neurology

authors： Moccia M,Lanzillo R,Costabile T,Russo C,Carotenuto A,Sasso G,Postiglione E,De Luca Picione C,Vastola M,Maniscalco GT,Palladino R,Brescia Morra V

更新日期：2015-01-01 00:00:00