The genetics of Parkinson's disease and parkinsonian syndromes.

abstract：:Although central facial paresis (CFP) is a major symptom of stroke, there is a lack of studies on the motor and non-motor disabilities in stroke patients. A prospective cohort study was performed at admission for inpatient rehabilitation and discharge of post-stroke phase of 112 patients (44% female, median age: 64 ye...

journal_title：Journal of neurology

authors： Volk GF,Steinerstauch A,Lorenz A,Modersohn L,Mothes O,Denzler J,Klingner CM,Hamzei F,Guntinas-Lichius O

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Dermic fibroblasts have been proposed as a potential genetic-ALS cellular model. This study aimed to explore whether dermic fibroblasts from patients with sporadic-ALS (sALS) recapitulate alterations typical of ALS motor neurons and exhibit abnormal DNA-damage response. METHODS:Dermic fibroblasts were obtai...

journal_title：Journal of neurology

authors： Riancho J,Castanedo-Vázquez D,Gil-Bea F,Tapia O,Arozamena J,Durán-Vían C,Sedano MJ,Berciano MT,Lopez de Munain A,Lafarga M

更新日期：2020-05-01 00:00:00

abstract：:Freezing of gait (FOG) is a disabling motor symptom experienced by a large proportion of patients with Parkinson's disease (PD). While it is known that FOG contributes to lower health-related quality of life (HRQoL), previous studies have not accounted for other important factors when measuring the specific impact of ...

journal_title：Journal of neurology

authors： Walton CC,Shine JM,Hall JM,O'Callaghan C,Mowszowski L,Gilat M,Szeto JY,Naismith SL,Lewis SJ

更新日期：2015-01-01 00:00:00

abstract：:Acute relapses of multiple sclerosis (MS) are treated with intravenous methylprednisolone (IVMP), which speeds recovery from exacerbation. It is known that IVMP suppresses the immunological activation which occurs during an acute attack of MS. However, the specific target genes affected by this therapy remain obscure....

journal_title：Journal of neurology

authors： Airla N,Luomala M,Elovaara I,Kettunen E,Knuutila S,Lehtimäki T

更新日期：2004-10-01 00:00:00

abstract：:Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study...

journal_title：Journal of neurology

authors： Pugliatti M,Parish LD,Cossu P,Leoni S,Ticca A,Saddi MV,Ortu E,Traccis S,Borghero G,Puddu R,Chiò A,Pirina P

更新日期：2013-02-01 00:00:00

abstract：:Few regional and seasonal Guillain-Barré syndrome (GBS) clusters have been reported so far. It is unknown whether patients suffering from sporadic GBS differ from GBS clusters with respect to clinical and paraclinical parameters, HLA association and antibody response to glycosphingolipids and Campylobacter jejuni (Cj)...

journal_title：Journal of neurology

authors： Schirmer L,Worthington V,Solloch U,Loleit V,Grummel V,Lakdawala N,Grant D,Wassmuth R,Schmidt AH,Gebhardt F,Andlauer TF,Sauter J,Berthele A,Lunn MP,Hemmer B

更新日期：2016-10-01 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

authors： Kornblum C,Lutterbey G,Bogdanow M,Kesper K,Schild H,Schröder R,Wattjes MP

更新日期：2006-06-01 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：:Gait variability has potential utility as a predictive measure of dysfunction in Parkinson's disease (PD). Current understanding implicates non-dopaminergic pathways. This study investigated the explanatory characteristics of gait variability in PD on and off medication under single and dual task conditions. Fifty peo...

journal_title：Journal of neurology

authors： Lord S,Baker K,Nieuwboer A,Burn D,Rochester L

更新日期：2011-04-01 00:00:00

abstract：:Recent studies have shown that cerebrospinal fluid (CSF) levels of α-synuclein (α-syn) are highly elevated in patients with Creutzfeldt-Jakob disease (CJD) compared to controls. However, the diagnostic value of CSF α-syn in CJD has not been established. To confirm whether CSF α-syn is increased in CJD and is a useful ...

journal_title：Journal of neurology

authors： Kasai T,Tokuda T,Ishii R,Ishigami N,Tsuboi Y,Nakagawa M,Mizuno T,El-Agnaf OM

更新日期：2014-06-01 00:00:00

abstract：:Nystagmus is a rhythmical rotation of the eyeball. Its characteristics can be defined mathematically by the axis of rotation and the angular velocity around this axis. We analysed the axis of rotation for the nystagmus in benign paroxysmal positional vertigo (BPPV) to elucidate its pathophysiology. Thirteen patients w...

journal_title：Journal of neurology

authors： Hayashi Y,Kanzaki J,Etoh N,Higashino K,Goto F,Schneider E,Kunihiro T

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVE:To determine the prevalence and risk factors for paroxysmal atrial fibrillation (PAF) diagnosis in non- cryptogenic ischemic stroke (CIS) patients. METHODS:In this pilot-prospective cohort study of non-CIS patients from September 2014 to September 2017, 53 patients were enrolled. 51/53 patients were implante...

journal_title：Journal of neurology

authors： Katz JM,Eng MS,Carrazco C,Patel AV,Jadonath R,Gribko M,Arora R,Libman RB

更新日期：2018-10-01 00:00:00

abstract：:In patients with Parkinson's disease (PD) disturbances of mental state constitute some of the most difficult treatment challenges of advanced disease, often limiting effective treatment of motor symptoms and leading to increased disability and poor quality of life. This article provides an update on the current knowle...

journal_title：Journal of neurology

authors： Schrag A

更新日期：2004-07-01 00:00:00

abstract：:The Euro-Esli study was an exploratory pooled analysis of data from 14 European clinical practice studies, which was conducted to audit the real-world effectiveness, safety, and tolerability of eslicarbazepine acetate (ESL) as an adjunctive treatment for partial-onset seizures. Retention and effectiveness were assesse...

journal_title：Journal of neurology

authors： Villanueva V,Holtkamp M,Delanty N,Rodriguez-Uranga J,McMurray R,Santagueda P

更新日期：2017-11-01 00:00:00

abstract：:There has been a resurgence in the use of functional neurosurgery for Parkinson's disease. An important factor that has played a role in this development is the recent understanding of the functional anatomy of the basal ganglia including a knowledge of the changes in the activities of neurons in the internal segment ...

journal_title：Journal of neurology

authors： Lang AE,Duff J,Saint-Cyr JA,Trepanier L,Gross RE,Lombardi W,Montgomery E,Hutchinson W,Lozano AM

更新日期：1999-09-01 00:00:00

abstract：:The clinical features of 31 cases of syringomyelic syndrome, confirmed by metrizamide CT myelography (CTM) or magnetic resonance imaging (MRI), were analysed. Bilateral suspended sensory disturbance, previously regarded as a characteristic feature, was encountered in only 2 cases (6.5%). Thirteen patients (41.9%) show...

journal_title：Journal of neurology

authors： Tashiro K,Fukazawa T,Moriwaka F,Hamada T,Isu T,Iwasaki Y,Abe H

更新日期：1987-10-01 00:00:00

abstract：:Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an importan...

journal_title：Journal of neurology

authors： Becker F,Schubert J,Striano P,Anttonen AK,Liukkonen E,Gaily E,Gerloff C,Müller S,Heußinger N,Kellinghaus C,Robbiano A,Polvi A,Zittel S,von Oertzen TJ,Rostasy K,Schöls L,Warner T,Münchau A,Lehesjoki AE,Zara F,Lerch

更新日期：2013-05-01 00:00:00

abstract：:Two cases of Addison's disease associated with myasthenia gravis are reported. This association has been described only rarely in the literature. In the first case, there were marked immunological abnormalities. It is most likely that the origin of the adrenocortical insufficiency in the second case is tuberculous. Th...

journal_title：Journal of neurology

authors： Dumas P,Archambeaud-Mouveroux F,Vallat JM,Barussaud D,Hugon J,Dumas M

更新日期：1985-01-01 00:00:00

abstract：:The long-duration response (LDR) to levodopa is an important component of the therapeutic response to the drug in Parkinson's disease (PD). Some characteristics are peculiar: it is independent from peripheral pharmacokinetics of levodopa, but it is dependent on the intervals between doses and on the size of each dose....

journal_title：Journal of neurology

authors： Zappia M,Nicoletti A

更新日期：2010-11-01 00:00:00

abstract：:A 73-year-old woman presented with multifocal cerebral dysfunction of 1 month's duration. Cranial CT scanning revealed unusual widespread abnormalities. Brain biopsy showed amyloid angiopathy affecting vessels in the meninges and cerebral cortex, with associated granulomatous angiitis. There was no clinical evidence o...

journal_title：Journal of neurology

authors： Ginsberg L,Geddes J,Valentine A

更新日期：1988-09-01 00:00:00

abstract：:The INCOMIN study (INdependent COMparison of INterferons) lends further support to the growing body of evidence that both dose and frequency of interferon beta (IFNbeta) administration are important in the treatment of multiple sclerosis (MS). High-dose, high-frequency IFNbeta (IFNbeta-1b 250 microg eod sc and IFNbeta...

journal_title：Journal of neurology

authors： Durelli L,Clerico M

更新日期：2005-09-01 00:00:00

abstract：AIM:To investigate whether primary lateral sclerosis (PLS) represents part of the amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) spectrum of diseases. METHODS:Comprehensive assessment was taken on 21 patients with PLS and results were compared to patients diagnosed with pure motor ALS (n = 27) and ALS...

journal_title：Journal of neurology

authors： Agarwal S,Highton-Williamson E,Caga J,Matamala JM,Dharmadasa T,Howells J,Zoing MC,Shibuya K,Geevasinga N,Vucic S,Hodges JR,Ahmed RM,Kiernan MC

更新日期：2018-08-01 00:00:00

abstract：OBJECTIVE:To investigate possible changes in autonomic cardiovascular regulation and cardiopulmonary baroreflex sensitivity in patients with primary cervical dystonia receiving chronic treatment with botulinum toxin type A. METHODS:Short-term power spectral analysis of heart rate and systolic blood pressure variabilit...

journal_title：Journal of neurology

authors： Tiple D,Strano S,Colosimo C,Fabbrini G,Calcagnini G,Prencipe M,Berardelli A

更新日期：2008-06-01 00:00:00

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 disequil...

journal_title：Journal of neurology

authors： Cocco E,Murru MR,Melis C,Schirru L,Solla E,Lai M,Rolesu M,Marrosu MG

更新日期：2004-09-01 00:00:00

abstract：:Acute porphyrias are a group of inherited metabolic disorders representing overproduction syndromes with the formation of neurotoxic haem precursors. Clinical manifestations consist of acute attacks, which include abdominal pain, dysautonomia, mental symptoms, polyneuropathy and seizures mimicking many other acute neu...

journal_title：Journal of neurology

authors： Pischik E,Kazakov V,Kauppinen R

更新日期：2008-07-01 00:00:00

abstract：:The aim of the present study was to assess the efficacy and safety of chronic subthalamic nucleus deep-brain stimulation (STN-DBS) in patients with Parkinson's disease (PD). 18 consecutive severely affected PD patients were included (mean age, SD: 56.9+/-6 years; mean disease duration: 13.5+/-4.4 years). All the patie...

journal_title：Journal of neurology

authors： Thobois S,Mertens P,Guenot M,Hermier M,Mollion H,Bouvard M,Chazot G,Broussolle E,Sindou M

更新日期：2002-05-01 00:00:00

abstract：:A general scheme of analysis for the investigation of minute calcification is presented. After low temperature ashing, the samples are subjected to chemical, structural and morphological study, using atomic absorption spectrometry, infrared spectrometry, X-ray diffraction and scanning electron microscopy. Details abou...

journal_title：Journal of neurology

authors： Michotte Y,Lowenthal A,Knaepen L,Collard M,Massart DL

更新日期：1977-06-13 00:00:00

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 imag...

journal_title：Journal of neurology

authors： Gallagher A,Grant EP,Madan N,Jarrett DY,Lyczkowski DA,Thiele EA

更新日期：2010-08-01 00:00:00

abstract：:We wanted to determine the neurocognitive profile of adult patients with moyamoya disease prior to neurosurgical intervention. The experience of three United States medical centers, Columbia University, University of Illinois at Chicago, and the University of Texas Southwestern Medical Center at Dallas, were combined....

journal_title：Journal of neurology

authors： Festa JR,Schwarz LR,Pliskin N,Cullum CM,Lacritz L,Charbel FT,Mathews D,Starke RM,Connolly ES,Marshall RS,Lazar RM

更新日期：2010-05-01 00:00:00

abstract：:The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

journal_title：Journal of neurology

authors： Simon NG,Kiernan MC

更新日期：2013-07-01 00:00:00