Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

abstract：:We analysed the kinetics and clinical impact of binding antibodies (BAbs) and neutralizing antibodies (NAbs) to three interferon beta (IFNbeta) products in patients with relapsing-remitting MS (RRMS). Patients with RRMS received IFNbeta-1b 8 MIU subcutaneously (SC) every other day, intramuscular (IM) IFNbeta-1a 30 mcg...

journal_title：Journal of neurology

authors： Perini P,Calabrese M,Biasi G,Gallo P

更新日期：2004-03-01 00:00:00

abstract：:Several reports in the literature describe the effects of low-dose (5 mg/kg/day) idebenone in significantly reducing cardiac hypertrophy in patients with Friedreich ataxia. However, the effects of idebenone on neurological function have not been reliably determined in these studies; when neurological parameters were r...

journal_title：Journal of neurology

authors： Schulz JB,Di Prospero NA,Fischbeck K

更新日期：2009-03-01 00:00:00

abstract：:The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have been reported in some ca...

journal_title：Journal of neurology

authors： Pingault V,Bondurand N,Le Caignec C,Tardieu S,Lemort N,Dubourg O,Le Guern E,Goossens M,Boespflug-Tanguy O,Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease.

更新日期：2001-06-01 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

authors： Sarasso E,Agosta F,Piramide N,Bianchi F,Butera C,Gatti R,Amadio S,Del Carro U,Filippi M

更新日期：2020-04-01 00:00:00

abstract：:This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...

journal_title：Journal of neurology

authors： Yacovino DA,Hain TC,Gualtieri F

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...

journal_title：Journal of neurology

authors： van der Lubbe MFJA,Vaidyanathan A,Van Rompaey V,Postma AA,Bruintjes TD,Kimenai DM,Lambin P,van Hoof M,van de Berg R

更新日期：2020-12-01 00:00:00

abstract：:Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid alpha-1,4-glucosidase deficiency and associated with recessive mutations in its coding gene GAA. Few studies have provided so far a detailed phenotypical characterization in late onset GSDII (LO-GSDII) patients. Genotype-phenotype ...

journal_title：Journal of neurology

authors： Remiche G,Ronchi D,Magri F,Lamperti C,Bordoni A,Moggio M,Bresolin N,Comi GP

更新日期：2014-01-01 00:00:00

abstract：:This short review summarizes epilepsy papers published in the Journal of Neurology in 2009, covering pathophysiology (inflammation; propagation pathways), new treatments (oxcarbazepine in paediatrics; levetiracetam in status epilepticus), and non-seizure outcomes (violence; foetal/pregnancy). ...

journal_title：Journal of neurology

authors： Lozsadi DA,Von Oertzen J,Cock HR

更新日期：2010-11-01 00:00:00

abstract：BACKGROUND AND PURPOSE:The association between anticardiolipin antibodies (aCL) and thrombosis is well recognized, but its role as an independent risk factor for stroke is not. The study's aim was to investigate the presence of antiphospholipid antibodies (aPL) and ischemic vascular events by using both traditional mea...

journal_title：Journal of neurology

authors： Caso V,Parnetti L,Panarelli P,Magni MP,Gallai V,Albi E

更新日期：2003-05-01 00:00:00

abstract：:The bulbocavernosus reflex (BCR) was examined in 39 normal potent men and in 252 patients with impaired potency of varying aetiology. For BCR evaluation minimum, maximum and mean latencies, the temporal dispersion in ten successive responses, together with minimum and maximum side differences from simultaneous recordi...

journal_title：Journal of neurology

authors： Tackmann W,Porst H,van Ahlen H

更新日期：1988-03-01 00:00:00

abstract：BACKGROUND:Sleep disorders can occur in early Parkinson's disease (PD). However, the relationship between different sleep disturbances and their longitudinal evolution has not been fully explored. OBJECTIVE:To describe the frequency, coexistence, and longitudinal change in excessive daytime sleepiness (EDS), insomnia,...

journal_title：Journal of neurology

authors： Xu Z,Anderson KN,Saffari SE,Lawson RA,Chaudhuri KR,Brooks D,Pavese N

更新日期：2021-01-01 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

authors： Brockmann K,Dechent P,Meins M,Haupt M,Sperner J,Stephani U,Frahm J,Hanefeld F

更新日期：2003-03-01 00:00:00

abstract：:A spontaneous dissecting aneurysm of the intracranial portion of the dominant right vertebral artery presented as massive subarachnoid hemorrhage, excruciating headache, and respiratory arrest in a 57-year-old white man with a history of systemic hypertension. He died on the 3rd day. Postmortem examination revealed a ...

journal_title：Journal of neurology

authors： Manz HJ,Luessenhop AJ

更新日期：1983-01-01 00:00:00

abstract：:Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease with an estimated incidence of 1 in 8000 and is the most common form of muscular dystrophy affecting adults. An unstable, untranslated part of the myotonic dystrophy protein kinase gene on the long arm of chromosome 19, composed of CTG repeats, is ...

journal_title：Journal of neurology

authors： Brugnoni R,Morandi L,Brambati B,Briscioli V,Cornelio F,Mantegazza R

更新日期：1998-05-01 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：: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：:Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase d...

journal_title：Journal of neurology

authors： Mercelis R,Martin JJ,Dehaene I,de Barsy T,Van den Berghe G

更新日期：1981-01-01 00:00:00

abstract：:Studies of the relationship between Alzheimer's disease (AD) and polymorphism in the promoter region of Interleukin 6 (IL-6) -174 G/C have reported inconsistent results. To assess the association between IL-6 -174 G/C promoter polymorphism and AD risk, a meta-analysis containing 3,101 AD cases and 3,860 controls from ...

journal_title：Journal of neurology

authors： Dai L,Liu D,Guo H,Wang Y,Bai Y

更新日期：2012-03-01 00:00:00

abstract：:The emotional and relationship problems associated with MS have not always been fully appreciated by the medical profession, which has tended to concentrate on the physical aspects of this disease. Yet the psychological problems of MS often cause more suffering than physical effects. ...

journal_title：Journal of neurology

authors： Kesselring J,Klement U

更新日期：2001-03-01 00:00:00

abstract：INTRODUCTION:Intracranial lipomas are rare, mostly congenital lesions. Sporadic case reports suggest an association with focal epilepsy. METHODS:All admissions to our epilepsy monitoring unit who had had brain MRI were reviewed for intracranial lipomas during 6 consecutive years. RESULTS:Five patients with intracrani...

journal_title：Journal of neurology

authors： Loddenkemper T,Morris HH 3rd,Diehl B,Lachhwani DK

更新日期：2006-05-01 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

authors： Ingebrigtsen T,Waterloo K,Marup-Jensen S,Attner E,Romner B

更新日期：1998-09-01 00:00:00

abstract：:Sixteen cerebrospinal fluid (CSF) specimens serially obtained during long-term follow-up of two patients with Devic's neuromyelitis optica (DNO) were compared with 65 CSF samples from patients with multiple sclerosis (MS). By statistical analysis, the CSF profile in DNO was found to differ from that observed in MS, ma...

journal_title：Journal of neurology

authors： Piccolo G,Franciotta DM,Camana C,Bergamaschi R,Banfi P,Sandrini G,Citterio A

更新日期：1990-07-01 00:00:00

abstract：:The seasonal occurrence of relapses was analysed retrospectively in a group of 53 patients with treated dermatomyositis (DM) or polymyositis (PM). In DM, the incidence of both myositic and cutaneous relapses was highest in summer whereas in the PM group relapses was more evenly distributed throughout the seasons but l...

journal_title：Journal of neurology

authors： Phillips BA,Zilko PJ,Garlepp MJ,Mastaglia FL

更新日期：2002-04-01 00:00:00

abstract：:This study aimed at an analysis of the release of Braintype and Heart-type Fatty Acid- Binding Proteins (B-FABP and HFABP) in acute ischaemic stroke and their potential value as neurobiochemical markers of brain damage. We investigated 42 consecutive patients admitted within 6 hours after ischaemic stroke. Serial veno...

journal_title：Journal of neurology

authors： Wunderlich MT,Hanhoff T,Goertler M,Spener F,Glatz JF,Wallesch CW,Pelsers MM

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVE:Childhood arterial ischaemic stroke (AIS) is rare, but causes significant morbidity and mortality. We aimed to investigate incidence, age-dependent clinical presentation, and risk factors and to discuss the medical care situation in Germany. METHODS:This prospective epidemiological study was conducted via ES...

journal_title：Journal of neurology

authors： Gerstl L,Weinberger R,Heinen F,Bonfert MV,Borggraefe I,Schroeder AS,Tacke M,Landgraf MN,Vill K,Kurnik K,Sorg AL,Olivieri M

更新日期：2019-12-01 00:00:00

abstract：:PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chori...

journal_title：Journal of neurology

authors： Deik A,Johannes B,Rucker JC,Sánchez E,Brodie SE,Deegan E,Landy K,Kajiwara Y,Scelsa S,Saunders-Pullman R,Paisán-Ruiz C

更新日期：2014-12-01 00:00:00

abstract：INTRODUCTION:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease....

journal_title：Journal of neurology

authors： Lyndon D,Davagnanam I,Wilson D,Jichi F,Merwick A,Bolsover F,Jager HR,Cipolotti L,Wheeler-Kingshott C,Hughes D,Murphy E,Lachmann R,Werring DJ

更新日期：2020-10-19 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：BACKGROUND:To date, insertable cardiac monitors (ICMs) are the most effective method for the detection of occult atrial fibrillation (AF) in cryptogenic stroke. The overall detection rate after 12 months, however, is low and ranges between 12.4 and 33.3%, even if clinical predictors are considered. Ischemic stroke pati...

journal_title：Journal of neurology

authors： Vollmuth C,Stoesser S,Neugebauer H,Hansel A,Dreyhaupt J,Ludolph AC,Kassubek J,Althaus K

更新日期：2019-12-01 00:00:00

abstract：:Gastrointestinal dysfunction, especially constipation, is one of the major problems in the daily life of patients with Parkinson's disease (PD). About 60 to 80% of PD patients suffer from constipation. Several studies have proven that constipation appears about 10 to 20 years prior to motor symptoms. More recently, Ab...

journal_title：Journal of neurology

authors： Ueki A,Otsuka M

更新日期：2004-10-01 00:00:00