C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

abstract：:Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficu...

journal_title：Journal of neurology

authors： Pollazzon M,Suominen T,Penttilä S,Malandrini A,Carluccio MA,Mondelli M,Marozza A,Federico A,Renieri A,Hackman P,Dotti MT,Udd B

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the role of MR morphometry in the characterization of cerebral microangiopathy (CMA) in relation to clinical and neuropsychological impairment. SUBJECTS AND METHODS:3D MR images of 27 patients and 27 age-matched controls were morphometrically analysed for regional thickness. The normalized values...

journal_title：Journal of neurology

authors： Preul C,Lohmann G,Hund-Georgiadis M,Guthke T,von Cramon DY

更新日期：2005-04-01 00:00:00

abstract：:The age-related structural changes of the human hippocampus are not entirely understood. The goal of the present investigation was to understand better the nature of age-related hippocampal changes by a comparative MR-analysis of four complementary aspects of hippocampal integrity: total volume, metabolite concentrati...

journal_title：Journal of neurology

authors： Szentkuti A,Guderian S,Schiltz K,Kaufmann J,Münte TF,Heinze HJ,Düzel E

更新日期：2004-11-01 00:00:00

abstract：BACKGROUNDS:Wake-Up Stroke (WUS) patients are generally excluded from thrombolytic therapy (rTPA) due to the unknown time of stroke onset. This study aimed to investigate the effects of rTPA in WUS patients during every day clinical scenarios, by measuring ischemic lesion volume and functional outcomes compared to non-...

journal_title：Journal of neurology

authors： Furlanis G,Ajčević M,Buoite Stella A,Cillotto T,Caruso P,Ridolfi M,Cova MA,Naccarato M,Manganotti P

更新日期：2020-03-01 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：:This review summarizes topical papers from the fields of neuro-ophthalmology and neuro-otology published from August 2013 to February 2015. The main findings are: (1) diagnostic criteria for pseudotumor cerebri have been updated, and the Idiopathic Intracranial Hypertension Treatment Trial evaluated the efficacy of ac...

journal_title：Journal of neurology

authors： Gold DR,Zee DS

更新日期：2015-12-01 00:00:00

abstract：UNLABELLED:The aim of the study was to assess adjunctive intravenous dexamethasone in adult community-acquired bacterial meningitis (BM) in daily practice. Analysis of consecutive patients (1990-2009) with acute community-acquired bacterial meningitis in a single centre in Zagreb, Croatia, N = 304. Adjusted relative ri...

journal_title：Journal of neurology

authors： Peterković V,Trkulja V,Kutleša M,Krajinović V,Lepur D

更新日期：2012-02-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Dysphagia is estimated to occur in up to 50% of the stroke neurorehabilitation population. Those patients with severe neurogenic oropharyngeal dysphagia (NOD) may receive feeding gastrostomy tubes (FGT) if noninvasive therapies prove ineffective in eliminating aspiration or sustaining adequate nu...

journal_title：Journal of neurology

authors： Ickenstein GW,Stein J,Ambrosi D,Goldstein R,Horn M,Bogdahn U

更新日期：2005-12-01 00:00:00

abstract：:Non motor symptoms (NMS) of PD are a key determinant of health, quality of life and societal cost of PD. Contrary to common perception, many NMS of PD occur early in PD and some may even predate the diagnosis of PD which is based on motor signs. These include olfactory deficit, sleep problems such as REM behaviour dis...

journal_title：Journal of neurology

authors： Chaudhuri KR,Naidu Y

更新日期：2008-09-01 00:00:00

abstract：:Cerebral amyloid angiopathy (CAA) was found in 57% of 123 autopsy brains removed from patients aged 59-101 years. The incidence of CAA increased with age. CAA was seen most frequently in the occipital cortex. Immunohistochemically, amyloid of CAA was positive for amyloid P component and negative for human AA protein a...

journal_title：Journal of neurology

authors： Yamada M,Tsukagoshi H,Otomo E,Hayakawa M

更新日期：1987-08-01 00:00:00

abstract：:The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify th...

journal_title：Journal of neurology

authors： Poisson A,Krack P,Thobois S,Loiraud C,Serra G,Vial C,Broussolle E

更新日期：2012-08-01 00:00:00

abstract：:Current findings suggest that multipotent stem cells may be suitable for cell replacement therapies in the treatment of neurodegenerative disorders. Embryonic stem (ES) cells are pluripotent cells isolated from the inner cell mass of the preimplantation blastocyst, which give rise to all cells in the organism. Similar...

journal_title：Journal of neurology

authors： Gerlach M,Braak H,Hartmann A,Jost WH,Odin P,Priller J,Schwarz J

更新日期：2002-10-01 00:00:00

abstract：:Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...

journal_title：Journal of neurology

authors： Kimmig H,Haussmann K,Mergner T,Lücking CH

更新日期：2002-06-01 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

authors： Barbiroli B,Medori R,Tritschler HJ,Klopstock T,Seibel P,Reichmann H,Iotti S,Lodi R,Zaniol P

更新日期：1995-07-01 00:00:00

abstract：:Exercise therapy (ET) can be beneficial in disabled multiple sclerosis (MS) patients. Intermittent transcranial magnetic theta burst stimulation (iTBS) induces long-term excitability changes of the cerebral cortex and may ameliorate spasticity in MS. We investigated whether the combination of iTBS and a program of ET ...

journal_title：Journal of neurology

authors： Mori F,Ljoka C,Magni E,Codecà C,Kusayanagi H,Monteleone F,Sancesario A,Bernardi G,Koch G,Foti C,Centonze D

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:Brain tumors cause significant morbidity and mortality due to rapid progression and high recurrence risks. Reliable biomarkers to improve diagnosis thereof are desirable. OBJECTIVE:This work aimed to identify panels of biomarkers for diagnostic purposes using cerebrospinal fluid (CSF)-based metabolomics. M...

journal_title：Journal of neurology

authors： Wang FX,Chen K,Huang FQ,Alolga RN,Ma J,Wu ZX,Fan Y,Ma G,Guan M

更新日期：2020-04-01 00:00:00

abstract：:Two patients are described, in whom MRI detected unilateral signal abnormalities in the region of the inferior olivary nuclei, suggesting an early stage of olivary hypertrophy. MRI was performed 4 and 7 weeks respectively after traumatic brain-stem injury. Palatal myoclonus was concomitantly observed in one patient, w...

journal_title：Journal of neurology

authors： Birbamer G,Buchberger W,Kampfl A,Aichner F

更新日期：1993-07-01 00:00:00

abstract：:Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main features are early onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The presence of choreoathetosis or dystonia in some patients sug...

journal_title：Journal of neurology

authors： Salvatore E,Varrone A,Criscuolo C,Mancini P,Sansone V,Strisciuglio C,Cicala D,Scarano V,Salvatore M,Pappatà S,De Michele G,Filla A

更新日期：2008-01-01 00:00:00

abstract：:This meta-analysis aims to compare percutaneous transluminal angioplasty (PTA) to medical treatment (MT) for symptomatic vertebral artery stenosis (SVAS) treatment. We searched PubMed, Springer, Google Scholar, Clinical Trials, Cochrane Central, Chinese National Knowledge Infrastructure, and China Biological Medicine ...

journal_title：Journal of neurology

authors： Feng H,Xie Y,Mei B,Liu Y,Li B,Yin C,Wang T,Liu Y

更新日期：2017-05-01 00:00:00

abstract：:Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between g...

journal_title：Journal of neurology

authors： Ozawa T,Tokunaga J,Arakawa M,Ishikawa A,Takeuchi R,Mezaki N,Miura T,Sakai N,Hokari M,Takeshima A,Utsumi K,Kondo T,Yokoseki A,Nishizawa M

更新日期：2013-08-01 00:00:00

abstract：:In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...

journal_title：Journal of neurology

authors： Doyle D

更新日期：1997-10-01 00:00:00

abstract：:In fibromyalgia (FM), reduced habituation of laser-evoked potentials (LEPs) suggests a dysfunction of pain processing at a central level. In this study, we aimed to further examine the nociceptive pathways at the peripheral to the central level in a large group of FM patients by means of LEPs and skin biopsy, in light...

journal_title：Journal of neurology

authors： de Tommaso M,Nolano M,Iannone F,Vecchio E,Ricci K,Lorenzo M,Delussi M,Girolamo F,Lavolpe V,Provitera V,Stancanelli A,Lapadula G,Livrea P

更新日期：2014-03-01 00:00:00

abstract：:A major challenge in the diagnosis of disorders of consciousness is the differential diagnosis between the vegetative state (VS) and the minimally conscious state (MCS). Clinically, VS is defined by complete unawareness, whereas MCS is defined by the presence of inconsistent but clearly discernible behavioural signs o...

journal_title：Journal of neurology

authors： Kotchoubey B,Merz S,Lang S,Markl A,Müller F,Yu T,Schwarzbauer C

更新日期：2013-04-01 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：:Psychiatric complaints are common in Parkinson's disease (PD), and have a significant influence in disease outcome and quality of life. Little attention has been paid to psychiatric symptoms at early stage disease. We aimed to screen a population of early stage PD patients for psychiatric symptoms and to study the rel...

journal_title：Journal of neurology

authors： Bugalho P,da Silva JA,Cargaleiro I,Serra M,Neto B

更新日期：2012-01-01 00:00:00

abstract：:Peripheral neuropathies have various causes, both infectious and non-infectious. When we think of "epidemics", we often refer to an infectious or even post-infectious origin. Nevertheless, the history of mankind is marked by episodes of epidemics of peripheral neuropathies of non-infectious nature, either of nutrition...

journal_title：Journal of neurology

authors： Mathis S,Soulages A,Vallat JM,Le Masson G

更新日期：2020-09-11 00:00:00

abstract：BACKGROUND:In December 2019, unexplained cases of pneumonia emerged in Wuhan, China, which were found to be secondary to the novel coronavirus SARS-CoV-2. On March 11, 2020, the WHO declared the Coronavirus Disease 2019 (COVID-2019) outbreak, a pandemic. OBJECTIVE:To clarify the neurological complications of SARS-CoV-...

journal_title：Journal of neurology

authors： Ghannam M,Alshaer Q,Al-Chalabi M,Zakarna L,Robertson J,Manousakis G

更新日期：2020-11-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：:Various ancillary investigations can assist clinicians in the differential diagnosis of patients with parkinsonism. It is unknown which test offers greatest diagnostic value in clinical practice. We included 156 consecutive patients with parkinsonism, but with an initially uncertain diagnosis. At baseline, all patient...

journal_title：Journal of neurology

authors： Aerts MB,Esselink RA,Abdo WF,Meijer FJ,Drost G,Norgren N,Janssen MJ,Borm GF,Bloem BR,Verbeek MM

更新日期：2015-02-01 00:00:00

abstract：:Frequent serial EEG investigations of three patients with neuropathologically confirmed Creutzfeldt-Jakob disease lasting 13, 24 and 68 weeks revealed typical periodic activity of short duration with stereotyped bilateral sharp waves at the 7th, 8th, and 12th week, respectively, after the onset of symptoms. During the...

journal_title：Journal of neurology

authors： Schlenska GK,Walter GF

更新日期：1989-12-01 00:00:00