Mitochondrial DNA in focal dystonia: a cybrid analysis.

abstract：OBJECTIVE:To test the hypothesis that variability in SNCA Rep1, a polymorphic dinucleotide microsatellite in the promoter region of the gene encoding α-synuclein, modifies the association between head injury and Parkinson's disease (PD) risk. METHODS:Participants in the Farming and Movement Evaluation (FAME) and the S...

journal_title：Annals of neurology

authors： Goldman SM,Kamel F,Ross GW,Jewell SA,Bhudhikanok GS,Umbach D,Marras C,Hauser RA,Jankovic J,Factor SA,Bressman S,Lyons KE,Meng C,Korell M,Roucoux DF,Hoppin JA,Sandler DP,Langston JW,Tanner CM

更新日期：2012-01-01 00:00:00

abstract：:An inception cohort of 40 children and adolescents with traumatic brain injury and suspected diffuse axonal injury were studied using a new high-resolution magnetic resonance imaging susceptibility-weighted technique that is very sensitive for hemorrhage. A blinded comparison was performed between the extent of parenc...

journal_title：Annals of neurology

authors： Tong KA,Ashwal S,Holshouser BA,Nickerson JP,Wall CJ,Shutter LA,Osterdock RJ,Haacke EM,Kido D

更新日期：2004-07-01 00:00:00

abstract：OBJECTIVE:Mixed pathologies are common in older persons with dementia. Little is known about mixed pathologies in probable Alzheimer disease (AD) and about the spectrum of neuropathology in mild cognitive impairment (MCI). The objective of this study was to investigate single and mixed common age-related neuropathologi...

journal_title：Annals of neurology

authors： Schneider JA,Arvanitakis Z,Leurgans SE,Bennett DA

更新日期：2009-08-01 00:00:00

abstract：:We describe a 33-year-old homosexual man with a steroid-responsive, remitting and relapsing leukoencephalopathy associated with recent human immunodeficiency virus type 1 (HIV-1) seroconversion. Biopsy of a parieto-occipital lesion revealed demyelination and astrogliosis with focal necrosis. Detailed investigations de...

journal_title：Annals of neurology

authors： Berger JR,Tornatore C,Major EO,Bruce J,Shapshak P,Yoshioka M,Houff S,Sheremata W,Horton GF,Landy H

更新日期：1992-01-01 00:00:00

abstract：:Volumetric magnetic resonance imaging analyses of 30 subjects were undertaken to quantify the global and temporal lobe atrophy in semantic dementia and Alzheimer's disease. Three groups of 10 subjects were studied: semantic dementia patients, Alzheimer's disease patients, and control subjects. The temporal lobe struct...

journal_title：Annals of neurology

authors： Chan D,Fox NC,Scahill RI,Crum WR,Whitwell JL,Leschziner G,Rossor AM,Stevens JM,Cipolotti L,Rossor MN

更新日期：2001-04-01 00:00:00

abstract：:A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Gale...

journal_title：Annals of neurology

authors： Waybright EA,Selhorst JB,Rosenblum WI,Suter CG

更新日期：1978-05-01 00:00:00

abstract：:We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 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：:Antibody against acetylcholine receptor (AChR) of human skeletal muscle was measured using enzyme-linked immunosorbent assay and found in 23 (74%) of 31 Japanese patients with generalized myasthenia gravis. In 15 patients with generalized myasthenia gravis who had not undergone thymectomy and who were not receiving ad...

journal_title：Annals of neurology

authors： Kawanami S,Tsuji R,Oda K

更新日期：1984-02-01 00:00:00

abstract：:Increased glutamatergic transmission in the basal ganglia is implicated in the pathophysiology of Parkinson's disease. However, the mechanisms by which activation of glutamate receptors produce parkinsonism are unknown. Therefore, we examined whether the glutamate agonists N-methyl-D-aspartate (NMDA), alpha-amino-3-hy...

journal_title：Annals of neurology

authors： Klockgether T,Turski L

更新日期：1993-10-01 00:00:00

abstract：:Intraneural injection of antisera from rabbits with high antigalactocerebroside antibody levels into rat sciatic nerve produced acute nerve conduction block. This was first apparent in some motor axons between 30 and 60 minutes after injection and progressed to completion within 2 to 4 hours. Concurrent morphological ...

journal_title：Annals of neurology

authors： Sumner AJ,Saida K,Saida T,Silberberg DH,Asbury AK

更新日期：1982-05-01 00:00:00

abstract：:Extramedullary hematopoiesis (EMH) in the spinal epidural space is a rare but treatable cause of progressive paraparesis in patients with a variety of hematological and systemic disorders. We report a case of extensive thoracic epidural EMH causing progressive spastic paraparesis in a patient with agnogenic myeloid me...

journal_title：Annals of neurology

authors： Stahl SM,Ellinger G,Baringer JR

更新日期：1979-05-01 00:00:00

abstract：:The hypothalamus was systematically examined in 30 patients with pathologically documented idiopathic parkinsonism. Using Lewy body formation as a marker for nerve cell degeneration, we observed abnormalities in every hypothalamus examined. Of the thirteen hypothalamic nuclei that could be individually identified, non...

journal_title：Annals of neurology

authors： Langston JW,Forno LS

更新日期：1978-02-01 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：:The seemingly unpredictable response to levodopa in patients with Parkinson's disease can be understood as an interaction between several distinct pharmacological effects of levodopa. The most important are a short-duration response with a half-life of minutes to hours and a long-duration response with a half-life of ...

journal_title：Annals of neurology

authors： Nutt JG,Holford NH

更新日期：1996-05-01 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：:Paired-helical filaments (PHFs) are an important diagnostic criterion of the inclusion-body myositis (IBM) muscle biopsy; but, until now, their presence could be identified only by electronmicroscopy. In this report, we describe an easy immunocytochemical procedure, utilizing commercially available antibody, that enab...

journal_title：Annals of neurology

authors： Askanas V,Alvarez RB,Mirabella M,Engel WK

更新日期：1996-03-01 00:00:00

abstract：:Macrophages are prominent participants in inflammatory demyelinating neuropathies. To provide a different means of evaluating macrophage behavior, we used immunostaining of teased nerve fibers and endoneurial blood vessels. We assessed the frequency with which macrophages were seen in inflammatory demyelinating neurop...

journal_title：Annals of neurology

authors： Griffin JW,Stoll G,Li CY,Tyor W,Cornblath DR

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...

journal_title：Annals of neurology

authors： Chao CC,Hsueh HW,Kan HW,Liao CH,Jiang HH,Chiang H,Lin WM,Yeh TY,Lin YH,Cheng YY,Hsieh ST

更新日期：2019-04-01 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：: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：:Units linked to stimulation of the superior sagittal sinus were identified and recorded from in the trigeminocervical complex of the anesthetized cat. Iontophoresis of glutamate NMDA receptor agonists increased the baseline-firing rate of these neurons. Coejection of sumatriptan, 4991W93, or ergometrine resulted in a ...

journal_title：Annals of neurology

authors： Goadsby PJ,Akerman S,Storer RJ

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal ...

journal_title：Annals of neurology

authors： Pagovich OE,Vo ML,Zhao ZZ,Petropoulos IN,Yuan M,Lertsuwanroj B,Ciralsky J,Lai E,Kiss S,D'Amico DJ,Mezey JG,Malik RA,Crystal RG

更新日期：2018-12-01 00:00:00

abstract：:We describe a 50-year-old male patient with hyponatremia (serum sodium level, 128 mEq/L) discovered during routine follow-up for Henoch-Schönlein nephritis. The patient was known to have a generalized idiopathic epilepsy and was on 2,000 mg/day of sodium valproate. After exclusion of other causes such as hypothyroidis...

journal_title：Annals of neurology

authors： Branten AJ,Wetzels JF,Weber AM,Koene RA

更新日期：1998-02-01 00:00:00

abstract：:We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...

journal_title：Annals of neurology

authors： Poza JJ,Sáenz A,Martínez-Gil A,Cheron N,Cobo AM,Urtasun M,Martí-Massó JF,Grid D,Beckmann JS,Prud'homme JF,López de Munain A

更新日期：1999-02-01 00:00:00

abstract：:Few studies evaluate neuropathological correlates of behavioral changes in Alzheimer disease (AD). We identified 31 autopsy patients with a diagnosis of definite AD. Behavioral changes were assessed with the Neuropsychiatric Inventory. Brain sections were collected from bilateral orbitofrontal and left anterior cingul...

journal_title：Annals of neurology

authors： Tekin S,Mega MS,Masterman DM,Chow T,Garakian J,Vinters HV,Cummings JL

更新日期：2001-03-01 00:00:00

abstract：:We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...

journal_title：Annals of neurology

authors： Selcen D,Engel AG

更新日期：2003-12-01 00:00:00

abstract：OBJECTIVE:Cortical spreading depolarizations (CSDs) are intense and ubiquitous depolarization waves relevant for the pathophysiology of migraine and brain injury. CSDs disrupt the blood-brain barrier (BBB), but the mechanisms are unknown. METHODS:A total of six CSDs were evoked over 1 hour by topical application of 30...

journal_title：Annals of neurology

authors： Sadeghian H,Lacoste B,Qin T,Toussay X,Rosa R,Oka F,Chung DY,Takizawa T,Gu C,Ayata C

更新日期：2018-09-01 00:00:00

abstract：OBJECTIVE:Human immunodeficiency virus (HIV) infection of the central nervous system (CNS) is frequently associated with intrathecal immunoglobulin synthesis and cerebrospinal fluid (CSF) pleocytosis, but little is known about the B-cell response in the CSF of these patients. In this study, we investigated the relation...

journal_title：Annals of neurology

authors： Cepok S,von Geldern G,Nolting T,Grummel V,Srivastava R,Zhou D,Hartung HP,Adams O,Arendt G,Hemmer B

更新日期：2007-11-01 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