Mitochondrial respiratory chain function in skeletal muscle of ALS patients.

abstract：OBJECTIVE:Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically cause...

journal_title：Annals of neurology

authors： Liu Y,Lopez-Santiago LF,Yuan Y,Jones JM,Zhang H,O'Malley HA,Patino GA,O'Brien JE,Rusconi R,Gupta A,Thompson RC,Natowicz MR,Meisler MH,Isom LL,Parent JM

更新日期：2013-07-01 00:00:00

abstract：:An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. Apolip...

journal_title：Annals of neurology

authors： Wilson CJ,Priore Oliva C,Maggi F,Catapano AL,Calandra S

更新日期：2003-06-01 00:00:00

abstract：:Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal ...

journal_title：Annals of neurology

authors： Tedeschi G,Bertolino A,Massaquoi SG,Campbell G,Patronas NJ,Bonavita S,Barnett AS,Alger JR,Hallett M

更新日期：1996-01-01 00:00:00

abstract：:Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease ...

journal_title：Annals of neurology

authors： Gasser T,Windgassen K,Bereznai B,Kabus C,Ludolph AC

更新日期：1998-07-01 00:00:00

abstract：OBJECTIVE:Metrics of diffusion tensor imaging (DTI) and magnetization transfer imaging (MTI) can detect diffuse axonal injury in traumatic brain injury (TBI). The relationship between the changes in these imaging measures and the underlying pathologies is still relatively unknown. This study investigated the radiologic...

journal_title：Annals of neurology

authors： Tu TW,Williams RA,Lescher JD,Jikaria N,Turtzo LC,Frank JA

更新日期：2016-06-01 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：:In this study, we preincubated the sera of 3 patients with neuropathies associated with elevated titers of IgM anti-GM1 antibodies, with increasing concentrations of intravenous Ig (IVIg) and assayed the inhibitory effect of this mixture on antibody binding to immobilized GM1 by an enzyme-linked immunosorbent assay. P...

journal_title：Annals of neurology

authors： Malik U,Oleksowicz L,Latov N,Cardo LJ

更新日期：1996-01-01 00:00:00

abstract：:Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested ...

journal_title：Annals of neurology

authors： Rowland LP

更新日期：1992-08-01 00:00:00

abstract：OBJECTIVE:To conduct complex segregation analyses of Parkinson's disease (PD). METHODS:Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with...

journal_title：Annals of neurology

authors： McDonnell SK,Schaid DJ,Elbaz A,Strain KJ,Bower JH,Ahlskog JE,Maraganore DM,Rocca WA

更新日期：2006-05-01 00:00:00

abstract：OBJECTIVE:Traumatic brain injury (TBI) often results in traumatic axonal injury (TAI). This can be difficult to identify using conventional imaging. Diffusion tensor imaging (DTI) offers a method of assessing axonal damage in vivo, but has previously mainly been used to investigate groups of patients. Machine learning ...

journal_title：Annals of neurology

authors： Hellyer PJ,Leech R,Ham TE,Bonnelle V,Sharp DJ

更新日期：2013-04-01 00:00:00

abstract：OBJECTIVE:Although electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high-frequency burst firing, which is considered as an elect...

journal_title：Annals of neurology

authors： Piallat B,Polosan M,Fraix V,Goetz L,David O,Fenoy A,Torres N,Quesada JL,Seigneuret E,Pollak P,Krack P,Bougerol T,Benabid AL,Chabardès S

更新日期：2011-05-01 00:00:00

abstract：:Pallidopyramidal disease is a rare disease of young patients in which they manifest a parkinsonian syndrome and pyramidal signs. Pallidopyramidal disease has been attributed to a degeneration of the pallidum and the pyramidal tract, although only 1 patient has been studied postmortem. In the present report, [18F]fluor...

journal_title：Annals of neurology

authors： Remy P,Hosseini H,Degos JD,Samson Y,Agid Y,Warter JM,Vidailhet M

更新日期：1995-12-01 00:00:00

abstract：:The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with...

journal_title：Annals of neurology

authors： So EL,Penry JK

更新日期：1981-01-01 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：:We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive...

journal_title：Annals of neurology

authors： Baloh RW,Yue Q,Furman JM,Nelson SF

更新日期：1997-01-01 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：: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：:Brain tissue from normal individuals with incidental Lewy bodies and cell loss in pigmented substantia nigra neurons (asymptomatic Parkinson's disease) and age-matched control subjects without nigral Lewy bodies was examined biochemically. There was no difference in dopamine levels or dopamine turnover in the caudate ...

journal_title：Annals of neurology

authors： Dexter DT,Sian J,Rose S,Hindmarsh JG,Mann VM,Cooper JM,Wells FR,Daniel SE,Lees AJ,Schapira AH

更新日期：1994-01-01 00:00:00

abstract：:We have previously shown bilateral activation of motor pathways and the recruitment of additional motor areas in studies of groups of patients with recovery from motor stroke. We have now developed a new positron emission tomographic technique to measure the changes in regional cerebral blood flow elicited during a mo...

journal_title：Annals of neurology

authors： Weiller C,Ramsay SC,Wise RJ,Friston KJ,Frackowiak RS

更新日期：1993-02-01 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：:Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...

journal_title：Annals of neurology

authors： Abou-Sleiman PM,Healy DG,Quinn N,Lees AJ,Wood NW

更新日期：2003-09-01 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：:Mutations of copper,zinc-superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in transgenic mice, mutant human cu,zn SOD causes progressive loss of motor neurons with consequent paralysis and death. Expression profiling of gene expression in SOD1-...

journal_title：Annals of neurology

authors： Olsen MK,Roberds SL,Ellerbrock BR,Fleck TJ,McKinley DK,Gurney ME

更新日期：2001-12-01 00:00:00

abstract：:We report the clinical features of 12 patients with drop attacks associated with Meniere's syndrome. Each described a sensation of being pushed, thrown, or knocked to the ground or a sudden illusion of movement of the environment that led to a fall. These episodes were not accompanied by symptoms of their typical atta...

journal_title：Annals of neurology

authors： Baloh RW,Jacobson K,Winder T

更新日期：1990-09-01 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：OBJECTIVE:Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. Although retrospective studies have identified continuous electroencephalographic (cEE...

journal_title：Annals of neurology

authors： Rosenthal ES,Biswal S,Zafar SF,O'Connor KL,Bechek S,Shenoy AV,Boyle EJ,Shafi MM,Gilmore EJ,Foreman BP,Gaspard N,Leslie-Mazwi TM,Rosand J,Hoch DB,Ayata C,Cash SS,Cole AJ,Patel AB,Westover MB

更新日期：2018-05-01 00:00:00

abstract：:Human immunodeficiency viruses from the brain can be distinguished from peripheral blood isolates by their ability to infect established human cell lines and their sensitivity to serum neutralization. Isolates from the brain and lymph nodes obtained from the same person displayed similar host range tropism and suscept...

journal_title：Annals of neurology

authors： Cheng-Mayer C,Levy JA

更新日期：1988-01-01 00:00:00

abstract：:Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...

journal_title：Annals of neurology

authors： Picker JD,Walsh CA

更新日期：2013-09-01 00:00:00

abstract：:Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...

journal_title：Annals of neurology

authors： Todd PK,Paulson HL

更新日期：2010-03-01 00:00:00

abstract：:In an attempt to define prognostic indicators of intelligence and seizures in the hemiparetic cerebral palsy population, birth histories, electroencephalograms, and computerized tomographic (CT) scans were reviewed in 52 children with hemiparetic cerebral palsy. Cases were excluded when the hemiparesis might have been...

journal_title：Annals of neurology

authors： Cohen ME,Duffner PK

更新日期：1981-04-01 00:00:00