A surface-in gradient of thalamic damage evolves in pediatric multiple sclerosis.

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

abstract：:We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian...

journal_title：Annals of neurology

authors： Valente EM,Salvi S,Ialongo T,Marongiu R,Elia AE,Caputo V,Romito L,Albanese A,Dallapiccola B,Bentivoglio AR

更新日期：2004-09-01 00:00:00

abstract：:Although genome-wide association studies (GWAS) have proven remarkably effective at identifying reliably associated genetic variants, the biology underlying these discoveries is rarely immediately apparent and in most cases seems bound to require extensive fine mapping and functional analysis before it is revealed. In...

journal_title：Annals of neurology

authors： Sawcer S,Wason J

更新日期：2012-10-01 00:00:00

abstract：:We assessed nigrostriatal dopaminergic function in Parkinson's disease (PD) patients undergoing a double-blind, placebo-controlled surgical trial of embryonic dopamine cell implantation. Forty PD patients underwent positron emission tomography (PET) imaging with [18F]fluorodopa (FDOPA) prior to randomization to transp...

journal_title：Annals of neurology

authors： Nakamura T,Dhawan V,Chaly T,Fukuda M,Ma Y,Breeze R,Greene P,Fahn S,Freed C,Eidelberg D

更新日期：2001-08-01 00:00:00

abstract：:We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogene...

journal_title：Annals of neurology

authors： Minassian BA,DeLorey TM,Olsen RW,Philippart M,Bronstein Y,Zhang Q,Guerrini R,Van Ness P,Livet MO,Delgado-Escueta AV

更新日期：1998-04-01 00:00:00

abstract：:It has been proposed that early-onset familial Alzheimer's disease (FAD) and sporadic Alzheimer's disease (AD) have different causes, with FAD due to a single dominant gene with disease onset before the sixth decade, whereas sporadic AD has a later onset and is not associated with a dominant pattern of inheritance. Gi...

journal_title：Annals of neurology

authors： Swearer JM,O'Donnell BF,Drachman DA,Woodward BM

更新日期：1992-11-01 00:00:00

abstract：:Sporadic amyotrophic lateral sclerosis is a motor neuron disease of unknown origin. Autoimmunity against voltage-gated calcium channels is one mechanism hypothesized to be the cause of the disease. In support of this hypothesis, it was previously reported that amyotrophic lateral sclerosis IgG specifically blocked the...

journal_title：Annals of neurology

authors： Nyormoi O

更新日期：1996-11-01 00:00:00

abstract：:Although Alzheimer's and Parkinson's diseases predominately affect elderly adults, the proteins that play a role in the pathogenesis of these diseases are expressed throughout life. In fact, many of the proteins hypothesized to be important in the progression of neurodegeneration play direct or indirect roles in the d...

journal_title：Annals of neurology

authors： Rogers D,Schor NF

更新日期：2010-02-01 00:00:00

abstract：:It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...

journal_title：Annals of neurology

authors： Caligiuri MP,Heindel WC,Lohr JB

更新日期：1992-01-01 00:00:00

abstract：:We measured brain acetylcholinesterase activity in 30 patients with Alzheimer's disease (AD) and 14 age-matched controls by positron emission tomography (PET) and using a carbon 11-labeled acetylcholine analogue. Seven AD patients had repeat PET scans. The k3 values were calculated as an index of acetylcholinesterase ...

journal_title：Annals of neurology

authors： Shinotoh H,Namba H,Fukushi K,Nagatsuka S,Tanaka N,Aotsuka A,Ota T,Tanada S,Irie T

更新日期：2000-08-01 00:00:00

abstract：OBJECTIVE:Reducing levels of the microtubule-associated protein tau has shown promise as a potential treatment strategy for diseases with secondary epileptic features such as Alzheimer disease. We wanted to determine whether tau reduction may also be of benefit in intractable genetic epilepsies. METHODS:We studied a m...

journal_title：Annals of neurology

authors： Gheyara AL,Ponnusamy R,Djukic B,Craft RJ,Ho K,Guo W,Finucane MM,Sanchez PE,Mucke L

更新日期：2014-09-01 00:00:00

abstract：:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...

journal_title：Annals of neurology

authors： Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

更新日期：1997-12-01 00:00:00

abstract：OBJECTIVE:Gut microbiome alterations in Parkinson disease (PD) have been reported repeatedly, but their functional relevance remains unclear. Fecal metabolomics, which provide a functional readout of microbial activity, have scarcely been investigated. We investigated fecal microbiome and metabolome alterations in PD, ...

journal_title：Annals of neurology

authors： Tan AH,Chong CW,Lim SY,Yap IKS,Teh CSJ,Loke MF,Song SL,Tan JY,Ang BH,Tan YQ,Kho MT,Bowman J,Mahadeva S,Yong HS,Lang AE

更新日期：2020-12-03 00:00:00

abstract：:The topography and magnitude of increase in peripheral type benzodiazepine binding sites (omega 3 sites) was investigated autoradiographically in the brains of patients with ischemic cerebrovascular disease, with multiple sclerosis, and with malignant glioma. 3H-PK 11195, a selective omega 3 site ligand, was employed....

journal_title：Annals of neurology

authors： Benavides J,Cornu P,Dennis T,Dubois A,Hauw JJ,MacKenzie ET,Sazdovitch V,Scatton B

更新日期：1988-12-01 00:00:00

abstract：:Neurofilaments, assembled from NF-L (68 kd), NF-M (95 kd), and NF-H (115 kd), are the most abundant structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor ne...

journal_title：Annals of neurology

authors： Vechio JD,Bruijn LI,Xu Z,Brown RH Jr,Cleveland DW

更新日期：1996-10-01 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：:Various C-terminally truncated amyloid beta peptides (Abeta) are linked to Alzheimer's disease (AD) pathogenesis. Cerebrospinal fluid (CSF) concentrations of Abeta38, Abeta40, and Abeta42 were measured by enzyme-linked immunosorbent assay in 30 patients with AD and 26 control subjects. CSF Abeta42 levels was decreased...

journal_title：Annals of neurology

authors： Schoonenboom NS,Mulder C,Van Kamp GJ,Mehta SP,Scheltens P,Blankenstein MA,Mehta PD

更新日期：2005-07-01 00:00:00

abstract：:Previous work has shown that lesions in the lateral cerebellum involving the dentate nucleus impair both reaching and pinching movements in humans and monkeys. This study addressed the question of whether disruption of the cerebellar-thalamo-cortical pathway at the level of the thalamus would produce behavioral defici...

journal_title：Annals of neurology

authors： Bastian AJ,Thach WT

更新日期：1995-12-01 00:00:00

abstract：:The integrity of the hypothalamic neuroendocrine dopaminergic neurons in Parkinson's disease was assessed by comparing the numbers and distribution of melanin-pigmented neurons in the arcuate and periventricular nuclei in 7 parkinsonian and 5 normal brains. No significant differences were observed. In contrast to theo...

journal_title：Annals of neurology

authors： Matzuk MM,Saper CB

更新日期：1985-11-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...

journal_title：Annals of neurology

authors： Grzeschik SM,Ganta M,Prior TW,Heavlin WD,Wang CH

更新日期：2005-08-01 00:00:00

abstract：:Analysis of the pathophysiology of hypokalemic paralysis, as it occurs in barium poisoning, chronic potassium deficiency, and thyrotoxicosis, suggests that these disorders may have a similar mechanism. An increased ratio of muscle sodium permeability to potassium permeability reduces the ionic diffusion potential, whi...

journal_title：Annals of neurology

authors： Layzer RB

更新日期：1982-06-01 00:00:00

abstract：OBJECTIVE:To understand how monosynaptic inputs onto adult-born dentate granule cells (DGCs) are altered in experimental mesial temporal lobe epilepsy (mTLE) and whether their integration differs from early-born DGCs that are mature at the time of epileptogenesis. METHODS:A dual-virus tracing strategy combining retrov...

journal_title：Annals of neurology

authors： Du X,Zhang H,Parent JM

更新日期：2017-06-01 00:00:00

abstract：OBJECTIVE:T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with mo...

journal_title：Annals of neurology

authors： Fisher E,Chang A,Fox RJ,Tkach JA,Svarovsky T,Nakamura K,Rudick RA,Trapp BD

更新日期：2007-09-01 00:00:00

abstract：OBJECTIVE:Therapeutic drug monitoring (TDM) of antiepileptic drugs (AEDs) is widely established for older generation AEDs, whereas there is limited evidence about newer AEDs. Our aim is to assess the benefit of TDM of newer generation AEDs in epilepsy. METHODS:We performed a randomized, controlled trial comparing syst...

journal_title：Annals of neurology

authors： Aícua-Rapún I,André P,Rossetti AO,Ryvlin P,Hottinger AF,Decosterd LA,Buclin T,Novy J

更新日期：2020-01-01 00:00:00

abstract：:Pathological evidence suggests that alterations of the blood-brain barrier (BBB) may occur in association with human immunodeficiency virus (HIV) dementia (HIVD). Increased BBB permeability could contribute to the development of dementia by facilitating the entry of activated and infected monocytes, as well as potenti...

journal_title：Annals of neurology

authors： Conant K,McArthur JC,Griffin DE,Sjulson L,Wahl LM,Irani DN

更新日期：1999-09-01 00:00:00

abstract：:In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased th...

journal_title：Annals of neurology

authors： Li Y,Yokota T,Matsumura R,Taira K,Mizusawa H

更新日期：2004-07-01 00:00:00

abstract：:Layer II of the entorhinal cortex contains the cells of origin for the perforant path, plays a critical role in memory processing, and consistently degenerates in end-stage Alzheimer's disease. The extent to which neuron loss in layer II of entorhinal cortex is related to mild cognitive impairment without dementia has...

journal_title：Annals of neurology

authors： Kordower JH,Chu Y,Stebbins GT,DeKosky ST,Cochran EJ,Bennett D,Mufson EJ

更新日期：2001-02-01 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：:Human T-cell lymphotropic virus type III (HTLV-III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV-III ...

journal_title：Annals of neurology

authors： Gabuzda DH,Ho DD,de la Monte SM,Hirsch MS,Rota TR,Sobel RA

更新日期：1986-09-01 00:00:00

abstract：:Life table methods were used to determine the relative risk of Alzheimer's disease (AD) in relatives of index cases with AD. Risk of AD was assessed in 967 first-degree relatives of 128 probands with clinically diagnosed AD and 572 first-degree relatives of a control group consisting of 84 subjects with Parkinson's di...

journal_title：Annals of neurology

authors： Farrer LA,O'Sullivan DM,Cupples LA,Growdon JH,Myers RH

更新日期：1989-05-01 00:00:00