Dopamine D2 receptor density remains constant in treated Parkinson's disease.

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：OBJECTIVE:Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which m...

journal_title：Annals of neurology

authors： Joureau B,de Winter JM,Conijn S,Bogaards SJP,Kovacevic I,Kalganov A,Persson M,Lindqvist J,Stienen GJM,Irving TC,Ma W,Yuen M,Clarke NF,Rassier DE,Malfatti E,Romero NB,Beggs AH,Ottenheijm CAC

更新日期：2018-02-01 00:00:00

abstract：:We sought to determine whether medullary serotonergic neurons were affected in multiple system atrophy (MSA). Immunostaining for tryptophan hydroxylase was performed on serial 50 microm sections of the medulla of brains obtained at autopsy from six control subjects, eight subjects with clinical diagnosis of MSA, and f...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM,Low PA,Parisi JE

更新日期：2004-03-01 00:00:00

abstract：:Although the basal ganglia have been implicated in the development of movement disorders since the 1940s, the exact role played by these structures has remained elusive. The development of the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-monkey model of parkinsonism, and the recent resurgence of surgical therapy for t...

journal_title：Annals of neurology

authors： Vitek JL,Giroux M

更新日期：2000-04-01 00:00:00

abstract：:A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb deletion, in the CLN3 gene, were studied to relate their genotype to their clinical phenotype. The onset of visual failure and epilepsy was highly concordant in both ...

journal_title：Annals of neurology

authors： Järvelä I,Autti T,Lamminranta S,Aberg L,Raininko R,Santavuori P

更新日期：1997-11-01 00:00:00

abstract：:Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a gene...

journal_title：Annals of neurology

authors： Klein CJ,Wu Y,Jentoft ME,Mer G,Spinner RJ,Dyck PJ,Dyck PJ,Mauermann ML

更新日期：2017-02-01 00:00:00

abstract：:Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromoso...

journal_title：Annals of neurology

authors： Ikeuchi T,Koide R,Tanaka H,Onodera O,Igarashi S,Takahashi H,Kondo R,Ishikawa A,Tomoda A,Miike T

更新日期：1995-06-01 00:00:00

abstract：:Mitochondria are cellular organelles crucial for energy supply and calcium homeostasis in neuronal cells, and their dysfunction causes seizure activity in some rare human epilepsies. To directly test whether mitochondrial respiratory chain enzymes are abnormal in the most common form of chronic epilepsy, temporal lobe...

journal_title：Annals of neurology

authors： Kunz WS,Kudin AP,Vielhaber S,Blümcke I,Zuschratter W,Schramm J,Beck H,Elger CE

更新日期：2000-11-01 00:00:00

abstract：:We report a prospective clinical and electroencephalographic study of 19 patients with juvenile myoclonic epilepsy and absence seizures. Absences began 1 to 9 (4.5 +/- 2.5) years before myoclonic jerks and generalized tonic-clonic seizures. Clinical manifestations during the absence ictus showed great variation, rangi...

journal_title：Annals of neurology

authors： Panayiotopoulos CP,Obeid T,Waheed G

更新日期：1989-04-01 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：OBJECTIVE:The discovery of a posture-dependent effect on the difference between intraocular pressure (IOP) and intracranial pressure (ICP) at the level of lamina cribrosa could have important implications for understanding glaucoma and idiopathic intracranial hypertension and could help explain visual impairments in as...

journal_title：Annals of neurology

authors： Eklund A,Jóhannesson G,Johansson E,Holmlund P,Qvarlander S,Ambarki K,Wåhlin A,Koskinen LO,Malm J

更新日期：2016-08-01 00:00:00

abstract：:Three young adults with intractable complex partial seizures were studied by electroencephalography, magnetoencephalography, and electrocorticography. Interictal electroencephalographic (EEG) spikes for each patient were grouped according to their morphological characteristics and distribution across channels. Mapping...

journal_title：Annals of neurology

authors： Rose DF,Sato S,Smith PD,Porter RJ,Theodore WH,Friauf W,Bonner R,Jabbari B

更新日期：1987-09-01 00:00:00

abstract：:Plasma exchange (PE) is the standard treatment in Guillain-Barré syndrome (GBS) patients who have lost the ability to walk. The effect of exchanges before this stage and the optimal number of exchanges for the other patients are still unknown. We randomized 556 GBS patients according to severity and number of exchange...

journal_title：Annals of neurology

authors：

更新日期：1997-03-01 00:00:00

abstract：:The mechanism underlying mirrored activity/movements in normal individuals is unknown. To investigate this, we studied 11 adults and 39 children who performed sequential finger-thumb opposition or repetitive index finger abduction. Surface electromyographic (EMG) activity recorded from the left and right first dorsal ...

journal_title：Annals of neurology

authors： Mayston MJ,Harrison LM,Stephens JA

更新日期：1999-05-01 00:00:00

abstract：:The aim of this study was to evaluate the use of functional magnetic resonance imaging as an alternative to intraoperative electrocortical stimulation mapping for the localization of critical language areas in the temporoparietal region. We investigated several requirements that functional magnetic resonance imaging m...

journal_title：Annals of neurology

authors： Rutten GJ,Ramsey NF,van Rijen PC,Noordmans HJ,van Veelen CW

更新日期：2002-03-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...

journal_title：Annals of neurology

authors： Link J,Fredrikson S,Söderström M,Olsson T,Höjeberg B,Ljungdahl A,Link H

更新日期：1994-02-01 00:00:00

abstract：:The monoclonal antibodies anti-Leu-19 and anti-NKH-1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T-cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N-CAM), we examined its expression on human muscle using antibodies to Leu-19, NKH-1, and purified ...

journal_title：Annals of neurology

authors： Illa I,Leon-Monzon M,Dalakas MC

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is often identified as a pathogenic factor. We aim to demonstrate that antioxidants are able to improve axonal degeneration and locomotor deficits in a mouse model of X-adrenoleukodystro...

journal_title：Annals of neurology

authors： López-Erauskin J,Fourcade S,Galino J,Ruiz M,Schlüter A,Naudi A,Jove M,Portero-Otin M,Pamplona R,Ferrer I,Pujol A

更新日期：2011-07-01 00:00:00

abstract：:Human T-lymphotropic virus type I (HTLV-I) has been associated with adult T-cell leukemia/lymphoma (ATL), a malignancy of mature CD4-positive lymphocytes, and with tropical spastic paraparesis (TSP), a demyelinating neurological syndrome. This article describes the clinical and pathological features of ATL and reviews...

journal_title：Annals of neurology

authors： Murphy EL,Blattner WA

更新日期：1988-01-01 00:00:00

abstract：:Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...

journal_title：Annals of neurology

authors： Kuzniecky R,Berkovic S,Andermann F,Melanson D,Olivier A,Robitaille Y

更新日期：1988-04-01 00:00:00

abstract：OBJECTIVE:Chronic demyelination can result in axonopathy and is associated with human neurological conditions such as multiple sclerosis (MS) in adults and cerebral palsy in infants. In these disorders, myelin regeneration is inhibited by impaired differentiation of oligodendrocyte progenitors into myelin-producing oli...

journal_title：Annals of neurology

authors： Fancy SP,Glasgow SM,Finley M,Rowitch DH,Deneen B

更新日期：2012-08-01 00:00:00

abstract：:Amyloid plaques in Alzheimer's disease contain beta-amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid pre...

journal_title：Annals of neurology

authors： Peacock ML,Murman DL,Sima AA,Warren JT Jr,Roses AD,Fink JK

更新日期：1994-04-01 00:00:00

abstract：:Several mutations in the amyloid precursor protein (APP) gene have been found to associate with pathologic deposition of the beta-amyloid peptide (Abeta) in neuritic plaques or in the walls of cerebral vessels. We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dement...

journal_title：Annals of neurology

authors： Grabowski TJ,Cho HS,Vonsattel JP,Rebeck GW,Greenberg SM

更新日期：2001-06-01 00:00:00

abstract：:Myelination is a central nervous system (CNS) process wherein oligodendrocyte-axon interactions lead to the establishment of myelin sheaths that stabilize, protect, and electrically insulate axons. In inflammatory demyelinating diseases such as multiple sclerosis (MS), the degeneration and eventual loss of functional ...

journal_title：Annals of neurology

authors： Kremer D,Aktas O,Hartung HP,Küry P

更新日期：2011-04-01 00:00:00

abstract：OBJECTIVE:C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS:Data were...

journal_title：Annals of neurology

authors： Le Blanc G,Jetté Pomerleau V,McCarthy J,Borroni B,van Swieten J,Galimberti D,Sanchez-Valle R,LaForce R Jr,Moreno F,Synofzik M,Graff C,Masellis M,Tartaglia MC,Rowe JB,Vandenberghe R,Finger E,Tagliavini F,de Mendonça A,

更新日期：2020-07-01 00:00:00

abstract：OBJECTIVE:The aim was to demonstrate that antibodies from patients with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis alter the levels of dopamine 1 receptor (D1R) and dopamine 2 receptor (D2R) and cause psychotic-like features in mice. METHODS:Cultured rat hippocampal neurons were treated with cerebrospinal...

journal_title：Annals of neurology

authors： Carceles-Cordon M,Mannara F,Aguilar E,Castellanos A,Planagumà J,Dalmau J

更新日期：2020-09-01 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：:Two distinct deficits of ocular smooth pursuit could be demonstrated using two types of visual stimulus motion in a patient who had suffered bilateral occipitoparietal lobe infarction. First, in response to constant-velocity (zero acceleration) target motion, smooth pursuit gain (eye velocity/target velocity) was mild...

journal_title：Annals of neurology

authors： Leigh RJ,Tusa RJ

更新日期：1985-02-01 00:00:00

abstract：:An 18-year-old man with acne fulminans developed an acute inflammatory myositis, an association not previously reported. The condition resolved with treatment using systemic corticosteroids. ...

journal_title：Annals of neurology

authors： Noseworthy JH,Heffernan LP,Ross JB,Sangalang VE

更新日期：1980-07-01 00:00:00

abstract：:Three patients with inferior branch palsies of the oculomotor nerve are described. Two were under 10 years of age and the third was 30 years old at the onset. All 3 presented with painless diplopia. The onset was sudden in 2 patients and progressive in the third. The palsy cleared within a short time in the 2 patients...

journal_title：Annals of neurology

authors： Susac JO,Hoyt WF

更新日期：1977-10-01 00:00:00