Surviving stiff-person syndrome: a case report.

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...

journal_title：Journal of neurology

authors： Lossos A,Ben-Hur T,Ben-Nariah Z,Enk C,Gomori M,Soffer D

更新日期：1995-02-01 00:00:00

abstract：INTRODUCTION:Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and ...

journal_title：Journal of neurology

authors： Polavarapu K,Preethish-Kumar V,Sekar D,Vengalil S,Nashi S,Mahajan NP,Thomas PT,Sadasivan A,Warrier M,Gupta A,Arunachal G,Debnath M,Keerthipriya MS,Pradeep-Chandra-Reddy C,Puttegowda A,John AP,Tavvala A,Gunasekaran S,S

更新日期：2019-09-01 00:00:00

abstract：:The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Wester...

journal_title：Journal of neurology

authors： Rosenbohm A,Peter RS,Erhardt S,Lulé D,Rothenbacher D,Ludolph AC,Nagel G,ALS Registry Study Group.

更新日期：2017-04-01 00:00:00

abstract：:Presymptomatic studies in ALS have consistently captured considerable disease burden long before symptom manifestation and contributed important academic insights. With the emergence of genotype-specific therapies, however, there is a pressing need to address practical objectives such as the estimation of age of sympt...

journal_title：Journal of neurology

authors： Chipika RH,Siah WF,McKenna MC,Li Hi Shing S,Hardiman O,Bede P

更新日期：2020-10-31 00:00:00

abstract：:Deep brain stimulation of the subthalamic nucleus (STN) is an effective treatment modality for motor symptoms of advanced Parkinson's disease. Recent studies focus on exploring its possible effects on cognition and behavior. We present a case with acute cognitive dysfunction due to misalignment of the electrodes to th...

journal_title：Journal of neurology

authors： Cakmakli GY,Oruckaptan H,Saka E,Elibol B

更新日期：2009-08-01 00:00:00

abstract：:Idiopathic intracranial hypertension is a neurological syndrome determined by a rise in intracranial pressure without a detectable cause. Course and prognosis may be changeable, requiring a multidisciplinary approach for its diagnosis and management. Although its precise pathogenesis is still unknown, many studies hav...

journal_title：Journal of neurology

authors： Toscano S,Lo Fermo S,Reggio E,Chisari CG,Patti F,Zappia M

更新日期：2020-05-27 00:00:00

abstract：:There is still uncertainty regarding risk factors for cancer occurrence in patients with myasthenia gravis (MG). The objective of this study is to determine the prevalence of extrathymic neoplasms in patients with MG and the factors associated with tumor occurrence. The archives of four tertiary MG centers were consul...

journal_title：Journal of neurology

authors： Citterio A,Beghi E,Millul A,Evoli A,Mantegazza R,Antozzi C,Baggi F,Cornelio F,Durelli L,Clerico M,Piccolo G,Cosi V

更新日期：2009-08-01 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

authors： Alkhawajah NM,Dunnigan SK,Bril V

更新日期：2014-08-01 00:00:00

abstract：:A night-time polygraphic sleep recording with continuous HbSaO2 monitoring was performed in 11 chair-bound Duchenne muscular dystrophy patients with severe restrictive lung disease but with blood gas values within normal limits when awake. No abnormalities of sleep pattern were detected. Nocturnal sleep did not have s...

journal_title：Journal of neurology

authors： Manni R,Ottolini A,Cerveri I,Bruschi C,Zoia MC,Lanzi G,Tartara A

更新日期：1989-10-01 00:00:00

abstract：OBJECTIVE:There exist controversial and discrepant results on the risk of spontaneous abortions and teratogenesis induced by interferon treatment in people with MS.Aim of this study is to evaluate risks of the administration of INFbeta related not only to the foetus, but also to children development up to 12-months dev...

journal_title：Journal of neurology

authors： Patti F,Cavallaro T,Lo Fermo S,Nicoletti A,Cimino V,Vecchio R,Laisa P,Zarbo R,Zappia M

更新日期：2008-08-01 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

authors： Modoni A,Silvestri G,Vita MG,Quaranta D,Tonali PA,Marra C

更新日期：2008-11-01 00:00:00

abstract：BACKGROUND:The frontal assessment battery (FAB) test is a composite tool for assessing executive functions related to the frontal lobe. Neuropsychological and blood-flow studies indicate distinct patterns of deterioration of anterior and posterior cortical function in Alzheimer's disease (AD) and subcortical vascular d...

journal_title：Journal of neurology

authors： Oguro H,Yamaguchi S,Abe S,Ishida Y,Bokura H,Kobayashi S

更新日期：2006-11-01 00:00:00

abstract：PURPOSE:Anti-myelin oligodendrocyte glycoprotein antibodies (anti-MOG), directed against a component of the myelin sheath, are sometimes detected in the blood or cerebrospinal fluid (CSF) of patients with acute demyelinating conditions. Cortical encephalitic presentations in anti-MOG-antibody-positive patients are reco...

journal_title：Journal of neurology

authors： Doig D,McNamara C,Mewasingh L,Beri S,Jones B,Kachramanoglou C,Jan W

更新日期：2020-10-14 00:00:00

abstract：:Applying microarray technology to identify new diagnostic and prognostic markers in peripheral blood cells (PBC) after therapeutic intervention opens great perspectives regarding patient subclassification. Three recombinant products of the pleiotropic agent interferon beta (rIFN-beta) are available for disease modifyi...

journal_title：Journal of neurology

authors： Goertsches RH,Hecker M,Zettl UK

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:To assess the association of Medial Temporal lobe Atrophy (MTA) and White Matter Hyperintensities (WMHs) with gray matter perfusion in Mild Cognitive Impairment (MCI). METHODS:56 MCI patients (age = 69.3 +/- 7.0, 32 females) underwent brain MR scan and (99m)Tc ECD SPECT. We evaluated MTA according to Schelte...

journal_title：Journal of neurology

authors： Caroli A,Testa C,Geroldi C,Nobili F,Guerra UP,Bonetti M,Frisoni GB

更新日期：2007-08-01 00:00:00

abstract：BACKGROUND:Bilateral pallidal lesions induce a range of cognitive and motor disorders, principally a parkinsonian syndrome in which severe disturbances of gait and gait initiation are frequently reported. However, the precise clinical features of these disorders (and the role of the pallidum therein) remain to be estab...

journal_title：Journal of neurology

authors： Krystkowiak P,Delval A,Dujardin K,Bleuse S,Blatt JL,Bourriez JL,Derambure P,Destée A,Defebvre L

更新日期：2006-05-01 00:00:00

abstract：:Twenty-nine cases of both clinically and neuropathologically diagnosed dementia with Lewy bodies (DLB) were retrospectively examined for autonomic symptoms. Twenty-eight cases showed some kind of autonomic dysfunction. Urinary incontinence (97 %) and constipation (83 %) were the two most common. Although urinary reten...

journal_title：Journal of neurology

authors： Horimoto Y,Matsumoto M,Akatsu H,Ikari H,Kojima K,Yamamoto T,Otsuka Y,Ojika K,Ueda R,Kosaka K

更新日期：2003-05-01 00:00:00

abstract：:Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimag...

journal_title：Journal of neurology

authors： Zhou L,Zhang H,Chen N,Zhang Z,Liu M,Dai L,Wang J,Jiang Y,Wu Y

更新日期：2018-06-01 00:00:00

abstract：:We examined the morphology of spinal accessory motoneurons and immunoreactivity to neurotrophins, brain-derived neurotropic factor (BDNF) and neurotrophin (NT)-3, as well as the presence of reactive astrocytosis in 70 tiptoe walking Yoshimura (twy) mice that develop calcification at C1-C2 vertebral level compressing t...

journal_title：Journal of neurology

authors： Uchida K,Baba H,Maezawa Y,Furukawa S,Furusawa N,Imura S

更新日期：1998-12-01 00:00:00

abstract：:Intrathecal IgG synthesis has been investigated by determining the IgG index and by isoelectric focusing in 30 cases of definite multiple sclerosis, in 15 cases of probable multiple sclerosis and in 128 patients affected by other neurological diseases. The blood-brain barrier function was evaluated at the same time by...

journal_title：Journal of neurology

authors： Poloni M,Rocchelli B,Scelsi R,Pinelli P

更新日期：1979-10-01 00:00:00

abstract：:We report three members of a single family with an apparently autosomal dominant, nonparoxysmal, hyperkinetic movement disorder with onset in adolescence. The proband, a 56-year-old woman, manifested dystonia, tremor and myoclonus; one of her daughters exhibited myoclonus with tremor, and the other demonstrated myoclo...

journal_title：Journal of neurology

authors： Lossos A,Cohen O,Meiner V,Blumenfeld A,Reches A

更新日期：1997-07-01 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

authors： Wiedemann G,Grötz J,Bewermeyer H,Hossmann V,Heiss WD

更新日期：1985-01-01 00:00:00

abstract：:Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the d...

journal_title：Journal of neurology

authors： Mason S,Barker RA

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVE:To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs). METHODS:Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis. RESULTS:We identified 22 patients (4 female) with GABABR-Abs, with a median...

journal_title：Journal of neurology

authors： Maureille A,Fenouil T,Joubert B,Picard G,Rogemond V,Pinto AL,Thomas L,Ducray F,Quadrio I,Psimaras D,Berzero G,Antoine JC,Desestret V,Honnorat J

更新日期：2019-01-01 00:00:00

abstract：:A comparative study of clinical and morphological findings in three fatal cases of acute necrotizing hemorrhagic encephalomyelitis (ANHE) and hyperacute experimental allergic encephalomyelitis (HEAE) in rhesus monkeys is reported. In all cases ANHE was characterized clinically by definite prodromal respiratory infecti...

journal_title：Journal of neurology

authors： Ravkina L,Harib I,Manovitch Z,Deconenko E,Letchinskaja E,Papilova E

更新日期：1979-08-01 00:00:00

abstract：:We examined the peripheral nervous system (PNS) (nerve conduction velocity (NCV)) and the central nervous system (CNS) (basal ganglia-mediated psychomotor speed) in 93 males seropositive for human immunodeficiency virus type 1 (HIV-1) with no prior history of opportunistic brain disease, antiretroviral treatment or in...

journal_title：Journal of neurology

authors： von Giesen HJ,Köller H,Hefter H,Arendt G

更新日期：2002-06-01 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

authors： Hanisch F,Eger K,Bork S,Lehnich H,Deschauer M,Zierz S

更新日期：2006-06-01 00:00:00

abstract：:Thirty-seven Japanese autopsy cases with diffuse Lewy body disease (DLBD) were reviewed from a clinicopathological viewpoint. Based on the neuropathological finding of whether or not many concomitant senile plaques (SPs) and/or neurofibrillary tangles (NFTs) are present. DLBD is divided into two forms: a common form a...

journal_title：Journal of neurology

authors： Kosaka K

更新日期：1990-06-01 00:00:00

abstract：:Parkinson's disease (PD) is a progressive neurological disorder characterized by motor symptoms as well as severe deficits in olfactory function and microstructural changes in olfactory brain regions. Because of the evidence of asymmetric neuropathological features in early-stage PD, we examined whether lateralized mi...

journal_title：Journal of neurology

authors： Joshi N,Rolheiser TM,Fisk JD,McKelvey JR,Schoffer K,Phillips G,Armstrong M,Khan MN,Leslie RA,Rusak B,Robertson HA,Good KP

更新日期：2017-07-01 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