Leptomeningeal metastases: peripheral nerve and root involvement--clinical and electrophysiological study.

abstract：:Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...

journal_title：Annals of neurology

authors： Barizzone N,Pauwels I,Luciano B,Franckaert D,Guerini FR,Cosemans L,Hilven K,Salviati A,Dooley J,Danso-Abeam D,di Sapio A,Cavalla P,Decallonne B,Mathieu C,Liston A,Leone M,Dubois B,D'Alfonso S,Goris A

更新日期：2013-03-01 00:00:00

abstract：OBJECTIVE:Clinical outcomes in multiple sclerosis (MS) are highly variable. We aim to determine the long-term clinical outcomes in MS, and to identify early prognostic features of these outcomes. METHODS:One hundred thirty-two people presenting with a clinically isolated syndrome were prospectively recruited between 1...

journal_title：Annals of neurology

authors： Chung KK,Altmann D,Barkhof F,Miszkiel K,Brex PA,O'Riordan J,Ebner M,Prados F,Cardoso MJ,Vercauteren T,Ourselin S,Thompson A,Ciccarelli O,Chard DT

更新日期：2020-01-01 00:00:00

abstract：:In a double-blind crossover study in which patients received placebo or active drug for varying periods, we evaluated the ability of guanidine hydrochloride (20 to 35 mg/kg per day perorally) to improve the rate of recovery in patients with moderate or severe botulism, type A, intoxication. Among 14 patients who recei...

journal_title：Annals of neurology

authors： Kaplan JE,Davis LE,Narayan V,Koster J,Katzenstein D

更新日期：1979-07-01 00:00:00

abstract：:beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseas...

journal_title：Annals of neurology

authors： Salih MA,Sunada Y,Al-Nasser M,Ozo CO,Al-Turaiki MH,Akbar M,Campbell KP

更新日期：1996-12-01 00:00:00

abstract：:A primary haplotype (H1) of the microtubule-associated protein Tau (MAPT) gene is associated with Parkinson's disease (PD). However, the mechanism for disease susceptibility remains unknown. We examined the promoter region of MAPT and identified single nucleotide polymorphisms and insertions of 1 to 11 nucleotides. Th...

journal_title：Annals of neurology

authors： Kwok JB,Teber ET,Loy C,Hallupp M,Nicholson G,Mellick GD,Buchanan DD,Silburn PA,Schofield PR

更新日期：2004-03-01 00:00:00

abstract：:PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were nove...

journal_title：Annals of neurology

authors： Hatano Y,Li Y,Sato K,Asakawa S,Yamamura Y,Tomiyama H,Yoshino H,Asahina M,Kobayashi S,Hassin-Baer S,Lu CS,Ng AR,Rosales RL,Shimizu N,Toda T,Mizuno Y,Hattori N

更新日期：2004-09-01 00:00:00

abstract：OBJECTIVES:African Americans are at greater risk for developing Alzheimer's disease (AD) dementia than non-Hispanic whites. In addition to biological considerations (eg, genetic influences and comorbid disorders), social and environmental factors may increase the risk of AD dementia. This paper (1) assesses neuroimagin...

journal_title：Annals of neurology

authors： Meeker KL,Wisch JK,Hudson D,Coble D,Xiong C,Babulal GM,Gordon BA,Schindler SE,Cruchaga C,Flores S,Dincer A,Benzinger TL,Morris JC,Ances BM

更新日期：2021-02-01 00:00:00

abstract：:Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonpr...

journal_title：Annals of neurology

authors： Straniero L,Guella I,Cilia R,Parkkinen L,Rimoldi V,Young A,Asselta R,Soldà G,Sossi V,Stoessl AJ,Priori A,Nishioka K,Hattori N,Follett J,Rajput A,Blau N,Pezzoli G,Farrer MJ,Goldwurm S,Rajput AH,Duga S

更新日期：2017-10-01 00:00:00

abstract：:Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. ...

journal_title：Annals of neurology

authors： Mäkelä JP,Hari R,Valanne L,Ahonen A

更新日期：1991-07-01 00:00:00

abstract：:In healthy individuals, motor training elicits cortical plasticity that encodes the kinematic details of the practiced movements and is thought to underlie recovery of function after stroke. The influence of age on this form of plasticity is incompletely understood. We studied 55 healthy subjects and identified a subs...

journal_title：Annals of neurology

authors： Sawaki L,Yaseen Z,Kopylev L,Cohen LG

更新日期：2003-04-01 00:00:00

abstract：:The nosological status of multifocal motor neuropathy remains controversial. The clinical and electrodiagnostic hallmarks suggest selective motor fiber involvement. In this study, we asked to what extent sensory nerves might be involved pathologically in multifocal motor neuropathy. Examination of sensory nerve biopsy...

journal_title：Annals of neurology

authors： Corse AM,Chaudhry V,Crawford TO,Cornblath DR,Kuncl RW,Griffin JW

更新日期：1996-03-01 00:00:00

abstract：:Posterior choroidal artery (PChA) territory infarcts remain the least well-known type of thalamic infarcts. Our study of 10 personal cases, selected from 2,925 stroke patients admitted consecutively to a community-based primary care center, and 10 published cases of unilateral PChA territory infarct suggests that they...

journal_title：Annals of neurology

authors： Neau JP,Bogousslavsky J

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to assess the distribution, frequency, and specific location of mutant huntingtin protein (mHTT) aggregates-the pathological hallmark of Huntington disease (HD)-within the various compartments of the spinal cord and their potential impact on the local vasculature and blood-spinal cord...

journal_title：Annals of neurology

authors： Sciacca G,Cicchetti F

更新日期：2017-12-01 00:00:00

abstract：:Four hundred five children from the Helsinki area who were 1 month to 16 years old were treated for acute encephalitis at the Children's Hospital, University of Helsinki, from January 1968 through December 1987. Encephalitis occurred most commonly in children 1 to 1.9 years of age, among whom the incidence was 16.7 pe...

journal_title：Annals of neurology

authors： Koskiniemi M,Rautonen J,Lehtokoski-Lehtiniemi E,Vaheri A

更新日期：1991-05-01 00:00:00

abstract：:The disappearance rates from plasma of intravenously administered levo-norepinephrine (l-NE), dextro-norepinephrine (d-NE), and isoproterenol (ISO) were measured in normal subjects and in patients with either multiple-system atrophy (MSA) or idiopathic orthostatic hypotension (IOH). The two isomers, l-NE and d-NE, wer...

journal_title：Annals of neurology

authors： Polinsky RJ,Goldstein DS,Brown RT,Keiser HR,Kopin IJ

更新日期：1985-07-01 00:00:00

abstract：:Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...

journal_title：Annals of neurology

authors： Kubek MJ,Knoblach SM,Sharif NA,Burt DR,Buterbaugh GG,Fuson KS

更新日期：1993-01-01 00:00:00

abstract：:In 2006, Yamanaka's group pioneered a method for reprogramming somatic cells by introducing definite transcription factors, which enabled the generation of induced pluripotent stem cells (iPSCs) with pluripotency comparable to that of embryonic stem cells. These iPSCs are attracting considerable attention for their po...

journal_title：Annals of neurology

authors： Ito D,Okano H,Suzuki N

更新日期：2012-08-01 00:00:00

abstract：:A child with neurofibromatosis exhibited gigantism and acromegaly in association with a hypothalamic mass lesion. Bromocriptine, 5 mg daily, reduced somatic growth rate and restored biochemical homeostasis but had no effect on tumor growth. Radiation therapy arrested tumor enlargement and stabilized deteriorating visu...

journal_title：Annals of neurology

authors： Duchowny MS,Katz R,Bejar RL

更新日期：1984-03-01 00:00:00

abstract：:In patients with Parkinson's disease and in normal subjects, the influence of tremor on repetitive voluntary movement was investigated in the index finger by comparing frequency of isometric force tremor with frequency of voluntary alternating isometric contractions. Tremor frequency, measured over the range from 0 to...

journal_title：Annals of neurology

authors： Logigian E,Hefter H,Reiners K,Freund HJ

更新日期：1991-08-01 00:00:00

abstract：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00

abstract：:Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, absence seizures. We studied a three-generation pedigree of 33 members, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with su...

journal_title：Annals of neurology

authors： Serratosa JM,Delgado-Escueta AV,Medina MT,Zhang Q,Iranmanesh R,Sparkes RS

更新日期：1996-02-01 00:00:00

abstract：:Chronic progressive myelopathy (CPM) is a difficult clinical problem. Many patients who present with CPM turn out to have a spinal form of multiple sclerosis (MS), but until there is clear lesion dissemination, a definite clinical diagnosis cannot be made. We have looked for MS-related abnormalities in 72 patients wit...

journal_title：Annals of neurology

authors： Paty DW,Blume WT,Brown WF,Jaatoul N,Kertesz A,McInnis W

更新日期：1979-11-01 00:00:00

abstract：:Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...

journal_title：Annals of neurology

authors： Bever CT Jr

更新日期：1994-01-01 00:00:00

abstract：:Hippocampal depth electrodes are often used to localize seizure onset in patients who may have temporal lobe epilepsy (TLE). A number of features of the spontaneous seizures and of their ictal onset patterns can be analyzed from these recordings. We compared a number of the typical electroencephalographic (EEG) change...

journal_title：Annals of neurology

authors： Williamson A,Spencer SS,Spencer DD

更新日期：1995-11-01 00:00:00

abstract：:Based on prior reports of free light chains of immunoglobulin G (IgG) in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS), we quantitated free kappa and lambda chains and whole IgG concentrations using sensitive and specific radioimmunoassays (RIAs). The RIA for free kappa chains had a sensitivit...

journal_title：Annals of neurology

authors： Rudick RA,Pallant A,Bidlack JM,Herndon RM

更新日期：1986-07-01 00:00:00

abstract：:To identify those factors associated with cerebral hemorrhage among brains with cerebral amyloid angiopathy (CAA), we undertook a comparative postmortem histopathological study of amyloid-containing vessels in the brains of patients with and without hemorrhage. Those without hemorrhage were represented by the followin...

journal_title：Annals of neurology

authors： Vonsattel JP,Myers RH,Hedley-Whyte ET,Ropper AH,Bird ED,Richardson EP Jr

更新日期：1991-11-01 00:00:00

abstract：:Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...

journal_title：Annals of neurology

authors： Chugani HT,Shewmon DA,Sankar R,Chen BC,Phelps ME

更新日期：1992-02-01 00:00:00

abstract：:A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....

journal_title：Annals of neurology

authors： Inoue K,Shilo K,Boerkoel CF,Crowe C,Sawady J,Lupski JR,Agamanolis DP

更新日期：2002-12-01 00:00:00

abstract：:Astrocytic necrosis is a prominent pathological feature of neuromyelitis optica (NMO) lesions and is clinically relevant. We report 5 NMO-related cases, all with longitudinally extensive lesions in the upper cervical cord, who underwent cervical cord (1) H-magnetic resonance spectroscopy. Lower myo-inositol/creatine v...

journal_title：Annals of neurology

authors： Ciccarelli O,Thomas DL,De Vita E,Wheeler-Kingshott CA,Kachramanoglou C,Kapoor R,Leary S,Matthews L,Palace J,Chard D,Miller DH,Toosy AT,Thompson AJ

更新日期：2013-08-01 00:00:00

abstract：:A prospective clinical and biochemical study on the effects of treatment with haloperidol has been performed in seven patients with Tourette syndrome. Pretreatment cerebrospinal fluid levels of homovanillic acid (CSF HVA) were significantly reduce in all patients, whereas 5-hydroxyindoleacetic acid was reduced in only...

journal_title：Annals of neurology

authors： Singer HS,Butler IJ,Tune LE,Seifert WE Jr,Coyle JT

更新日期：1982-10-01 00:00:00