News on the genetics, epidemiology, medical care and translational research of Schwannomas.

abstract：OBJECTIVE:Gluten neuropathy (GN) is the term used to describe peripheral neuropathy that occurs in patients with gluten sensitivity (GS) or coeliac disease (CD) in the absence of other risk factors. We aimed to describe the neurophysiological progression rate of GN across time and look into the potential role of geneti...

journal_title：Journal of neurology

authors： Zis P,Sarrigiannis P,Artemiadis A,Sanders DS,Hadjivassiliou M

更新日期：2021-01-01 00:00:00

abstract：:Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...

journal_title：Journal of neurology

authors： Schwarz N,Hahn A,Bast T,Müller S,Löffler H,Maljevic S,Gaily E,Prehl I,Biskup S,Joensuu T,Lehesjoki AE,Neubauer BA,Lerche H,Hedrich UBS

更新日期：2016-02-01 00:00:00

abstract：:The aim of this work was to determine whether survival changed during 2002-2009 at a French amyotrophic lateral sclerosis (ALS) center. We included all patients with ALS who were seen consecutively at the center from January 2002-May 2009. Participants were followed from date of first visit through death, date of cens...

journal_title：Journal of neurology

authors： Gordon PH,Salachas F,Bruneteau G,Pradat PF,Lacomblez L,Gonzalez-Bermejo J,Morelot-Panzini C,Similowski T,Elbaz A,Meininger V

更新日期：2012-09-01 00:00:00

abstract：:Two unusual cases of cerebral toxoplasmosis in AIDS patients are presented. Two homosexual males aged 33 and 52 years in CDC stage IV C1 complained of memory loss during the past 6 months, as well as weight loss and mild fever. They showed severe intellectual deterioration and discrete basal ganglia dysfunction. Motor...

journal_title：Journal of neurology

authors： Arendt G,Hefter H,Figge C,Neuen-Jakob E,Nelles HW,Elsing C,Freund HJ

更新日期：1991-12-01 00:00:00

abstract：:Nerve conduction studies (NCS) and electromyography (EMG), often shortened to 'EMGs', are a useful adjunct to clinical examination of the peripheral nervous system and striated skeletal muscle. NCS provide an efficient and rapid method of quantifying nerve conduction velocity (CV) and the amplitude of both sensory ner...

journal_title：Journal of neurology

authors： Kane NM,Oware A

更新日期：2012-07-01 00:00:00

abstract：:The relationship between atherosclerosis and cognitive function is less well studied in Chinese populations. In addition, the results among middle-aged adults have been mixed. We aimed to investigate the association of atherosclerosis measured by carotid intima-media thickness (CIMT) and cognitive function in middle-a...

journal_title：Journal of neurology

authors： Wang A,Chen G,Su Z,Liu X,Yuan X,Jiang R,Cao Y,Chen S,Luo Y,Guo X,Wu S,Zhao X

更新日期：2016-10-01 00:00:00

abstract：:Thirteen patients with subacute sclerosing panencephalitis (S.S.P.E.) at different stages of the disease were admitted for transfer factor treatment. The transfer factor was prepared from non-selected blood bank donors. The activity of the transfer factor was tested in patients with diseases other than S.S.P.E. and wa...

journal_title：Journal of neurology

authors： Käckell YM,Grob PJ,Kreth WH,Kibler R,Meulen V

更新日期：1975-12-02 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：:Although seizures in brain tumor patients are common, the knowledge on optimal anti-seizure therapy in this patient group is limited. An observational study was carried out using a database of all patients from the neuro-oncology service during the period 2000-2005, with data on seizure characteristics, therapy with A...

journal_title：Journal of neurology

authors： van Breemen MS,Rijsman RM,Taphoorn MJ,Walchenbach R,Zwinkels H,Vecht CJ

更新日期：2009-09-01 00:00:00

abstract：:A 37-year-old man presented with an acute amnestic syndrome of Korsakoff's type and an upper brain-stem oculomotor syndrome. After a moderate improvement with steroid therapy, he developed progressive behavioural changes due to a frontal lobe syndrome, in addition to motor and visual impairment. Memory performance was...

journal_title：Journal of neurology

authors： Vighetto A,Charles N,Salzmann M,Confavreux C,Aimard G

更新日期：1991-09-01 00:00:00

abstract：:Alemtuzumab is an anti-CD52 monoclonal antibody recently licensed for use in relapsing-remitting multiple sclerosis. Here, we report our experience of its use in neuromyelitis optica (NMO) spectrum disorders. A retrospective case review of patients treated with alemtuzumab in Cambridge, UK, was conducted to identify t...

journal_title：Journal of neurology

authors： Azzopardi L,Cox AL,McCarthy CL,Jones JL,Coles AJ

更新日期：2016-01-01 00:00:00

abstract：:Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. Recently the prodynorphin (PDYN) gene was identified as the cause of SCA23 in four Dutch families displaying progressive gait and li...

journal_title：Journal of neurology

authors： Fawcett K,Mehrabian M,Liu YT,Hamed S,Elahi E,Revesz T,Koutsis G,Herscheson J,Schottlaender L,Wardle M,Morrison PJ,Morris HR,Giunti P,Wood N,Houlden H

更新日期：2013-03-01 00:00:00

abstract：:Natalizumab (NAT) is an effective therapy for relapsing-remitting multiple sclerosis (MS), but is associated with an increased risk of progressive multifocal leucoencephalopathy after 2 years therapy. Thus, NAT treated patients often decide to stop NAT therapy after 2 years. Reports on recurrence of disease activity a...

journal_title：Journal of neurology

authors： Havla J,Gerdes LA,Meinl I,Krumbholz M,Faber H,Weber F,Pellkofer HL,Hohlfeld R,Kümpfel T

更新日期：2011-09-01 00:00:00

abstract：:Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...

journal_title：Journal of neurology

authors： Ruiz PJ,Castrillo JC,Burguera JA,Campos V,Castro A,Cancho E,Chacón J,Vara JH,del Val JL,Garcia EL,Miquel F,Sanz P,Vela L

更新日期：2011-06-01 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：:A complex neurological syndrome, which rapidly appeared in a 54-year-old woman, created strong diagnostic difficulties. In fact, while the carotid-angiography was negative and CSF not significant, the scintigraphy suggested a multifocal metastatic or infarctual pathology. The CT scan easily allowed us to resolve the d...

journal_title：Journal of neurology

authors： Barontini F,Sità D,Nori A

更新日期：1981-01-01 00:00:00

abstract：:The frequency of malignant diseases among 1866 living and 340 deceased multiple sclerosis (MS) patients was investigated in Finland. The study revealed a low prevalence (0.64%) and mortality (0.07%) rate of cancer among MS patients. The difference between MS patients and general population was significant. The highest...

journal_title：Journal of neurology

authors： Palo J,Duchesne J,Wikström J

更新日期：1977-10-07 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：:Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...

journal_title：Journal of neurology

authors： Reilich P,Schramm N,Schoser B,Schneiderat P,Strigl-Pill N,Müller-Höcker J,Kress W,Ferbert A,Rudnik-Schöneborn S,Noth J,Lochmüller H,Weis J,Walter MC

更新日期：2010-07-01 00:00:00

abstract：BACKGROUND:Volume loss in the deep gray matter (DGM) has been reported in patients with multiple sclerosis (MS) already at early stages of the disease and is thought to progress throughout the disease course. OBJECTIVE:To investigate the impact and predictive value of volume loss in DGM and thalamic subnuclei on disab...

journal_title：Journal of neurology

authors： Magon S,Tsagkas C,Gaetano L,Patel R,Naegelin Y,Amann M,Parmar K,Papadopoulou A,Wuerfel J,Stippich C,Kappos L,Chakravarty MM,Sprenger T

更新日期：2020-05-01 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 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：:Multiple system atrophy (MSA) manifests as a combination of dysautonomia and motor symptoms/signs. However, rare cases presenting with autonomic failures in absence of motor symptoms/signs until their deaths have been reported and are referred to as non-motor MSA. To clarify pathological findings underlying non-motor ...

journal_title：Journal of neurology

authors： Riku Y,Watanabe H,Mimuro M,Iwasaki Y,Ito M,Katsuno M,Sobue G,Yoshida M

更新日期：2017-11-01 00:00:00

abstract：:Cerebellar syndrome is one of the most disabling developments in multiple sclerosis (MS). In neurodegenerative disorders, cerebellar syndrome is thought to be related to a neurochemical deficit of 5-hydroxytryptamine (5-HT). Previous studies found that a levorotatory form of 5-hydroxytryptophan, a 5-HT precursor, and ...

journal_title：Journal of neurology

authors： Monaca-Charley C,Stojkovic T,Duhamel A,De Seze J,Ferriby D,Vermersch P

更新日期：2003-10-01 00:00:00

abstract：:Fatigue is an important contributor to quality of life in patients who survive aneurysmal subarachnoid hemorrhage (SAH), but the determinants of this fatigue are unclear. We assessed the occurrence of fatigue 1 year after SAH and its relation to physical or cognitive impairment, passive coping, and emotional problems,...

journal_title：Journal of neurology

authors： Passier PE,Post MW,van Zandvoort MJ,Rinkel GJ,Lindeman E,Visser-Meily JM

更新日期：2011-06-01 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：:Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features...

journal_title：Journal of neurology

authors： No YJ,Zavanone C,Bielle F,Nguyen-Michel VH,Samson Y,Adam C,Navarro V,Dupont S

更新日期：2017-05-01 00:00:00

abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...

journal_title：Journal of neurology

authors： Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata A

更新日期：1985-01-01 00:00:00

abstract：:The occurrence of spontaneous internal carotid or vertebral artery dissection after childbirth remains rare. To our knowledge, seven cases of arterial dissection in the postpartum period have been described in the literature as single case reports. We report four additional cases of internal carotid and vertebral arte...

journal_title：Journal of neurology

authors： Gasecki AP,Kwiecinski H,Lyrer PA,Lynch TG,Baxter T

更新日期：1999-08-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Parkinson's disease (PD) reduces independence and quality of life through deterioration of upper limb motor function. Transcranial direct current stimulation (tDCS) may offer an alternative, adjunctive therapy for PD. However, the efficacy of tDCS for upper limb motor rehabilitation in PD is unkn...

journal_title：Journal of neurology

authors： Simpson MW,Mak M

更新日期：2020-12-01 00:00:00