UCHL-1 is not a Parkinson's disease susceptibility gene.

abstract：OBJECTIVE:To investigate the frequency and subtypes of mild cognitive impairment (MCI) in idiopathic rapid eye movement sleep behavior disorder (RBD) and Parkinson's disease (PD) in association with RBD. METHODS:One hundred and twelve subjects without dementia or major depression including 32 idiopathic RBD patients, ...

journal_title：Annals of neurology

authors： Gagnon JF,Vendette M,Postuma RB,Desjardins C,Massicotte-Marquez J,Panisset M,Montplaisir J

更新日期：2009-07-01 00:00:00

abstract：:The factors contributing to selective motoneuron loss in amyotrophic lateral sclerosis (ALS) remain undefined. To investigate whether calcium-binding proteins contribute to selective motoneuron vulnerability in ALS, we compared calbindin-D28K and parvalbumin immunoreactivity in motoneuron populations in human ALS, and...

journal_title：Annals of neurology

authors： Alexianu ME,Ho BK,Mohamed AH,La Bella V,Smith RG,Appel SH

更新日期：1994-12-01 00:00:00

abstract：:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of th...

journal_title：Annals of neurology

authors： Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

更新日期：1997-10-01 00:00:00

abstract：:Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

journal_title：Annals of neurology

authors： Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

更新日期：2001-01-01 00:00:00

abstract：:An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and a...

journal_title：Annals of neurology

authors： Arts WF,Loonen MC,Sengers RC,Slooff JL

更新日期：1993-05-01 00:00:00

abstract：:Ganaxolone (3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one) is a novel neurosteroid which has anticonvulsant properties in a number of seizure models as well as the ability to enhance function of the gamma-aminobutyric acid-A (GABA(A)) receptor complex via a neurosteroid binding site. The object of these experiment...

journal_title：Annals of neurology

authors： Snead OC 3rd

更新日期：1998-10-01 00:00:00

abstract：:In patients with the frontal variant of frontotemporal lobar degeneration (fv-FTLD), behavioral abnormalities may vary from apathy with motor slowness (apathetic form) to disinhibition with agitation (disinhibited form). These clinical presentations may be related to specific regional cerebral dysfunction and to defic...

journal_title：Annals of neurology

authors： Franceschi M,Anchisi D,Pelati O,Zuffi M,Matarrese M,Moresco RM,Fazio F,Perani D

更新日期：2005-02-01 00:00:00

abstract：:The frequency with which patients presenting with acute or chronic noncompressive cord syndromes subsequently develop multiple sclerosis is uncertain. Magnetic resonance imaging (MRI) was performed on 121 patients with such syndromes to determine the frequency of asymptomatic brain lesions and to assess the sensitivit...

journal_title：Annals of neurology

authors： Miller DH,McDonald WI,Blumhardt LD,du Boulay GH,Halliday AM,Johnson G,Kendall BE,Kingsley DP,MacManus DG,Moseley IF

更新日期：1987-12-01 00:00:00

abstract：:The mechanisms responsible for early prenecrotic ischemic brain edema were investigated in rats by comparing brain metabolism, tissue water (HOH) content, and sodium and potassium ion concentration in brain during ischemia induced by decapitation, by the Pulsinelli-Brierley technique, and by carotid embolization. Alth...

journal_title：Annals of neurology

authors： Kogure K,Busto R,Scheinberg P

更新日期：1981-03-01 00:00:00

abstract：:Previous studies have indicated increased immunoreactivity of the endogenous opioid peptide beta-endorphin in the cerebrospinal fluid (CSF) of infants under 2 years of age with apnea. To assess the role of endogenous opioids in the pathogenesis of apnea in children, the effect of oral treatment with the opioid antagon...

journal_title：Annals of neurology

authors： Myer EC,Morris DL,Brase DA,Dewey WL,Zimmerman AW

更新日期：1990-01-01 00:00:00

abstract：:A 30-year-old man presented with decreased vision in the right eye of three weeks' duration. Examination indicated a chiasmal syndrome and evidence of subarachnoid hemorrhage. CAT scan showed a large suprasellar mass. Surgical intervention confirmed the presence of a globular lesion filled with blood clots involving m...

journal_title：Annals of neurology

authors： Fermaglich J,Kattah J,Manz H

更新日期：1978-11-01 00:00:00

abstract：:The cerebrovascular response of newborn animals to hypotension has not been defined on a regional basis. Using an autoradiographic technique employing 14C-iodoantipyrine as indicator, we studied the cerebral physiological responses of newborn dogs to hypotension induced by exsanguination or by administration of Escher...

journal_title：Annals of neurology

authors： Young RS,Hernandez MJ,Yagel SK

更新日期：1982-11-01 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：:The purpose of this study was to determine the role of high-resolution T2-weighted fast multiplanar inversion-recovery (FMPIR) magnetic resonance (MR) imaging in detecting and delineating microscopic focal cortical dysplasia (FCD). We performed MR scans with FMPIR on 42 patients with suspected neocortical epilepsy. Te...

journal_title：Annals of neurology

authors： Chan S,Chin SS,Nordli DR,Goodman RR,DeLaPaz RL,Pedley TA

更新日期：1998-11-01 00:00:00

abstract：:We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine s...

journal_title：Annals of neurology

authors： Kappler J,von Figura K,Gieselmann V

更新日期：1992-03-01 00:00:00

abstract：:The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/e...

journal_title：Annals of neurology

authors： Lehéricy S,van de Moortele PF,Lobel E,Paradis AL,Vidailhet M,Frouin V,Neveu P,Agid Y,Marsault C,Le Bihan D

更新日期：1998-09-01 00:00:00

abstract：:Mutations in genes encoding the NADH ubiquinone oxidoreductase, complex I of the respiratory chain, cause a diverse group of diseases. They include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. There is no effective treatment for t...

journal_title：Annals of neurology

authors： Qi X,Lewin AS,Sun L,Hauswirth WW,Guy J

更新日期：2004-08-01 00:00:00

abstract：:Neurosurgical procedures such as the dorsal root entry zone operation, ganglionectomy, and spinal-cord stimulation have been offered to patients with intractable post-herpetic neuralgia (PHN). Poor efficacy or high morbidity have limited the overall usefulness of these procedures. We recently conducted a preliminary o...

journal_title：Annals of neurology

authors： Pappagallo M,Campbell JN

更新日期：1994-01-01 00:00:00

abstract：:Interpretation of biochemical measurements in the human brain after death is complicated by a variety of premortem, perimortem, and postmortem factors. The activity of glutamic acid decarboxylase (GAD) in particular has been found to vary considerably among human brains. In contrast to neurotransmitter-associated enzy...

journal_title：Annals of neurology

authors： Maker HS,Weiss C,Weissbarth S,Silides DJ,Whetsell W

更新日期：1981-10-01 00:00:00

abstract：:A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, c...

journal_title：Annals of neurology

authors： Morita H,Ikeda S,Yamamoto K,Morita S,Yoshida K,Nomoto S,Kato M,Yanagisawa N

更新日期：1995-05-01 00:00:00

abstract：:The relationship between extrapyramidal sign (EPS) severity and cognitive function was investigated in 184 patients with idiopathic Parkinson's disease (PD) and 301 normal elderly individuals from a community-dwelling cohort in northern Manhattan, New York City. Fifty-six of the patients with PD met criteria for demen...

journal_title：Annals of neurology

authors： Richards M,Stern Y,Marder K,Cote L,Mayeux R

更新日期：1993-03-01 00:00:00

abstract：:Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...

journal_title：Annals of neurology

authors： Cochius JI,Figlewicz DA,Kälviäinen R,Nousiainen U,Farrell K,Patry G,Söderfeldt B,Frydman M,Lerman P,Andermann F

更新日期：1993-11-01 00:00:00

abstract：OBJECTIVE:What mechanisms underlie the loss and recovery of consciousness after severe brain injury? We sought to establish, in the largest cohort of patients with disorders of consciousness (DOC) to date, the link between gold standard clinical measures of awareness and wakefulness, and specific patterns of local brai...

journal_title：Annals of neurology

authors： Lutkenhoff ES,Chiang J,Tshibanda L,Kamau E,Kirsch M,Pickard JD,Laureys S,Owen AM,Monti MM

更新日期：2015-07-01 00:00:00

abstract：:A prospective study of 162 patients with adult-onset chronic epilepsy revealed 4 in whom computed tomographic scanning was the only diagnostic test that detected the presence of a surgically correctable cerebral lesion. These patients had suffered from seizures for 1 to 14 years and at the time of operation demonstrat...

journal_title：Annals of neurology

authors： Jabbari B,Huott AD,Di Chiro G,Martins AN,Youngblood LA,Harper MG

更新日期：1980-04-01 00:00:00

abstract：OBJECTIVE:Genetic variants of the cytoplasmic FMR1-interacting protein 2 (CYFIP2) encoding an actin-regulatory protein are associated with brain disorders, including intellectual disability and epilepsy. However, specific in vivo neuronal defects and potential treatments for CYFIP2-associated brain disorders remain lar...

journal_title：Annals of neurology

authors： Lee SH,Zhang Y,Park J,Kim B,Kim Y,Lee SH,Kim GH,Huh YH,Lee B,Kim Y,Lee Y,Kim JY,Kang H,Choi SY,Jang S,Li Y,Kim S,Jin C,Pang K,Kim E,Lee Y,Kim H,Kim E,Choi JH,Kim J,Lee KJ,Choi SY,Han K

更新日期：2020-09-01 00:00:00

abstract：:In a patient with acquired immunodeficiency disease syndrome (AIDS) and muscle weakness, a muscle biopsy specimen disclosed degeneration of muscle fibers, regeneration, and focal endomysial mononuclear inflammation. A conspicuous feature was the presence of perivascular macrophages within the endomysium that showed po...

journal_title：Annals of neurology

authors： Chad DA,Smith TW,Blumenfeld A,Fairchild PG,DeGirolami U

更新日期：1990-10-01 00:00:00

abstract：:Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias...

journal_title：Annals of neurology

authors： Kaufmann WE,Theda C,Naidu S,Watkins PA,Moser AB,Moser HW

更新日期：1996-02-01 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：OBJECTIVE:To evaluate the analgesic effect of botulinum toxin type A (BTX-A) on patients with spinal cord injury-associated neuropathic pain. METHODS:The effect of BTX-A on 40 patients with spinal cord injury-associated neuropathic pain was investigated using a randomized, double-blind, placebo-controlled design. A 1-...

journal_title：Annals of neurology

authors： Han ZA,Song DH,Oh HM,Chung ME

更新日期：2016-04-01 00:00:00

abstract：:In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...

journal_title：Annals of neurology

authors： Rosen JA,Barsoum AH

更新日期：1979-07-01 00:00:00