Cortical myoclonus in Angelman syndrome.

abstract：OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...

journal_title：Annals of neurology

authors： Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJ

更新日期：2006-02-01 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：:Between 36 and 44 weeks after conception, telencephalic white matter in the newborn appears to be particularly vulnerable to insults that result in morphological disturbances. Available evidence indicates that this disorder (or group of disorders), named acquired perinatal leukoencephalopathy, reflects a decrease in b...

journal_title：Annals of neurology

authors： Leviton A,Gilles FH

更新日期：1984-07-01 00:00:00

abstract：:Aggregated tau proteins constitute the basic matrix of neuronal inclusions specific to numerous neurodegenerative disorders. Monodimensional and two-dimensional Western blot analyses performed on cortical brain homogenates allowed discrimination between disease-specific tau protein profiles. These observations raised ...

journal_title：Annals of neurology

authors： Delacourte A,Sergeant N,Wattez A,Gauvreau D,Robitaille Y

更新日期：1998-02-01 00:00:00

abstract：:White matter degeneration is one of the pathological conditions of dentatorubral-pallidoluysian atrophy. Autopsy brains exhibited a reduced number of glial cells in the lesions and an involvement of oligodendrocytes in nuclear inclusion formation, which previously has been recognized only as a pathological hallmark in...

journal_title：Annals of neurology

authors： Yamada M,Sato T,Tsuji S,Takahashi H

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVE:Pituitary dysfunction is a recognized consequence of traumatic brain injury (TBI) that causes cognitive, psychological, and metabolic impairment. Hormone replacement offers a therapeutic opportunity. Blast TBI (bTBI) from improvised explosive devices is commonly seen in soldiers returning from recent conflict...

journal_title：Annals of neurology

authors： Baxter D,Sharp DJ,Feeney C,Papadopoulou D,Ham TE,Jilka S,Hellyer PJ,Patel MC,Bennett AN,Mistlin A,McGilloway E,Midwinter M,Goldstone AP

更新日期：2013-10-01 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：: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 oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...

journal_title：Annals of neurology

authors： Wisniewski KE,Kieras FJ,French JH,Houck GE Jr,Ramos PL

更新日期：1984-07-01 00:00:00

abstract：:Nine patients who had suffered strokes were examined between 10 and 34 days after onset using positron emission tomography. DMO labeled with carbon 11 was used to evaluate brain acid-base balance, and the oxygen-15 inhalation technique was used to measure regional cerebral blood flow, the oxygen extraction fraction, a...

journal_title：Annals of neurology

authors： Syrota A,Castaing M,Rougemont D,Berridge M,Baron JC,Bousser MG,Pocidalo JJ

更新日期：1983-10-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal dementia (FTD) in 14% of cases. Five percent report a family history of ALS, and other ALS patients report a family history of other neurodegenerative diseases. The objective of this study was to conduct a family aggregation study of ALS, a...

journal_title：Annals of neurology

authors： Byrne S,Heverin M,Elamin M,Bede P,Lynch C,Kenna K,MacLaughlin R,Walsh C,Al Chalabi A,Hardiman O

更新日期：2013-11-01 00:00:00

abstract：:We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SC...

journal_title：Annals of neurology

authors： Craig K,Keers SM,Archibald K,Curtis A,Chinnery PF

更新日期：2004-05-01 00:00:00

abstract：:A number of reports have suggested an increasing incidence of primary brain tumors, especially malignant astrocytomas, in the elderly population. To investigate this issue, we analyzed the incidence and temporal trends of primary intracranial neoplasms diagnosed in the population of Rochester, Minnesota, over the 40 y...

journal_title：Annals of neurology

authors： Radhakrishnan K,Mokri B,Parisi JE,O'Fallon WM,Sunku J,Kurland LT

更新日期：1995-01-01 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：:Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...

journal_title：Annals of neurology

authors： Al Mutairi F,Alzahrani F,Ababneh F,Kashgari AA,Alkuraya FS

更新日期：2018-02-01 00:00:00

abstract：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 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：:Magnetic resonance imaging is a highly sensitive method for the detection of the lesions of multiple sclerosis and renders possible the study and the evolution of early lesions. Previous reports on magnetic resonance imaging following gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) injection demonstrated that...

journal_title：Annals of neurology

authors： Katz D,Taubenberger JK,Cannella B,McFarlin DE,Raine CS,McFarland HF

更新日期：1993-11-01 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：OBJECTIVES:Amyloid-beta(42) (Abeta(42)) appears central to Alzheimer's disease (AD) pathogenesis and is a major component of amyloid plaques. Mean cerebrospinal fluid (CSF) Abeta(42) is decreased in dementia of the Alzheimer's type. This decrease may reflect plaques acting as an Abeta(42) "sink," hindering transport of...

journal_title：Annals of neurology

authors： Fagan AM,Mintun MA,Mach RH,Lee SY,Dence CS,Shah AR,LaRossa GN,Spinner ML,Klunk WE,Mathis CA,DeKosky ST,Morris JC,Holtzman DM

更新日期：2006-03-01 00:00:00

abstract：:The role of mitochondrial DNA (mtDNA) mutations in the pathogenesis of Leber's hereditary optic neuropathy (LHON) has yet to be characterized. Several clinical features of the disease imply that nuclear genes might also be involved in its expression. We have confirmed the presence of a severe NADH:coenzyme Q1 reductas...

journal_title：Annals of neurology

authors： Cock HR,Tabrizi SJ,Cooper JM,Schapira AH

更新日期：1998-08-01 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：:We performed magnetic resonance imaging and magnetic resonance spectroscopic imaging on 28 patients with multiple sclerosis stratified for disability and clinical course (relapsing with at least partial remissions or secondary progressive disease). Lesions were segmented on the conventional proton density and T2-weigh...

journal_title：Annals of neurology

authors： Narayanan S,Fu L,Pioro E,De Stefano N,Collins DL,Francis GS,Antel JP,Matthews PM,Arnold DL

更新日期：1997-03-01 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

abstract：:Clinical electrophysiological studies are important in the evaluation of patients with Guillain-Barré syndrome. Physiological evidence of demyelination occurs in almost all patients with Guillain-Barré syndrome, especially if serial studies are performed. Criteria for demyelination are proposed. Prognostic information...

journal_title：Annals of neurology

authors： Cornblath DR

更新日期：1990-01-01 00:00:00

abstract：:To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...

journal_title：Annals of neurology

authors： Mikati MA,Holmes GL,Chronopoulos A,Hyde P,Thurber S,Gatt A,Liu Z,Werner S,Stafstrom CE

更新日期：1994-09-01 00:00:00

abstract：:The published information on glutamate levels in cerebrospinal fluid (CSF) and modifications in neurological disorders is controversial. In the present study, we demonstrated a metabolic instability of glutamate in untreated CSF and a spurious elevation of its levels by the current methods of CSF acidification. These ...

journal_title：Annals of neurology

authors： Ferrarese C,Pecora N,Frigo M,Appollonio I,Frattola L

更新日期：1993-03-01 00:00:00

abstract：:This report reviews the fundamental principles and the changing concepts of nerve stimulation techniques, and discusses the proper application of these techniques in the differential diagnosis of peripheral nerve disorders. Nerve conduction studies help delineate the extent and distribution of the neural lesion and di...

journal_title：Annals of neurology

authors： Kimura J

更新日期：1984-10-01 00:00:00

abstract：OBJECTIVE:Recanalization of arterial obstruction is associated with improved clinical outcomes. There are no controlled data demonstrating whether arterial obstruction status predicts the treatment effect of intravenous (IV) tissue plasminogen activator (tPA). We aimed to determine if the presence of arterial obstructi...

journal_title：Annals of neurology

authors： De Silva DA,Churilov L,Olivot JM,Christensen S,Lansberg MG,Mlynash M,Campbell BC,Desmond P,Straka M,Bammer R,Albers GW,Davis SM,Donnan GA,EPITHET-DEFUSE Investigators.

更新日期：2011-10-01 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