Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion.

Abstract:

:Pearson syndrome is a systemic disorder of oxidative phosphorylation in infants, predominantly affecting the bone marrow and exocrine pancreas and associated with single deletions in mitochondrial DNA (mtDNA). CNS involvement may occur in patients who survive the infantile hematopoietic disorder. We describe a Pearson syndrome patient who developed neurologic manifestations associated with the pathologic features of Leigh syndrome. Biochemical studies in muscle and skin fibroblasts showed partial deficiencies of complexes I and IV of the respiratory chain. Adenosine triphosphate production in mitochondria isolated from skin fibroblasts was reduced to 25% of controls. We detected a novel 3.6 Kb mtDNA deletion in skin fibroblasts from the proband but not in his mother's white blood cells. Leigh syndrome seems to be the common neuropathologic expression of any disorder causing severe impairment of oxidative energy production in the CNS.

journal_name

Neurology

journal_title

Neurology

authors

Santorelli FM,Barmada MA,Pons R,Zhang LL,DiMauro S

doi

10.1212/wnl.47.5.1320

subject

Has Abstract

pub_date

1996-11-01 00:00:00

pages

1320-3

issue

5

eissn

0028-3878

issn

1526-632X

journal_volume

47

pub_type

杂志文章
  • A randomized crossover study of bee sting therapy for multiple sclerosis.

    abstract:BACKGROUND:Bee sting therapy is increasingly used to treat patients with multiple sclerosis (MS) in the belief that it can stabilize or ameliorate the disease. However, there are no clinical studies to justify its use. METHODS:In a randomized, crossover study, we assigned 26 patients with relapsing-remitting or relaps...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/01.wnl.0000184442.02551.4b

    authors: Wesselius T,Heersema DJ,Mostert JP,Heerings M,Admiraal-Behloul F,Talebian A,van Buchem MA,De Keyser J

    更新日期:2005-12-13 00:00:00

  • Predictors of outcome after anterior temporal lobectomy: the intracarotid amobarbital test.

    abstract::The intracarotid amobarbital test (IAT) examines hemispheric memory and language. We set out to determine whether memory performance on the IAT correlated with seizure relief after anterior temporal lobectomy in 117 patients with refractory epilepsy. The IAT assessed recognition memory performance for nine items with ...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/wnl.44.12.2325

    authors: Sperling MR,Saykin AJ,Glosser G,Moran M,French JA,Brooks M,O'Connor MJ

    更新日期:1994-12-01 00:00:00

  • Landry-Guillain-Barré syndrome with abnormal pupils and normal eye movements: a case report.

    abstract::A 66-year-old woman with acute idiopathic polyneuritis (Landry-Guillain-Barré [LGB] syndrome) had normal extraocular movements, but her pupils did not react to light or accommodation. This is the first such case to be reported. Pharmacologic testing pointed to postganglionic involvement of parasympathetic and sympathe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.7.1033

    authors: Williams D,Brust JC,Abrams G,Challenor Y,Devereaux M

    更新日期:1979-07-01 00:00:00

  • A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.

    abstract:OBJECTIVES:Laminin alpha2 deficiency presents at birth with muscle weakness, hypotonia, and usually asymptomatic white matter signal on MRI. Few patients with laminin alpha2 deficiency have been described with seizures and structural brain abnormalities. The reason for the variation in the severity of the clinical phen...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.55.8.1128

    authors: Pegoraro E,Fanin M,Trevisan CP,Angelini C,Hoffman EP

    更新日期:2000-10-24 00:00:00

  • Interphysician agreement in the diagnosis of subtypes of acute ischemic stroke: implications for clinical trials. The TOAST Investigators.

    abstract::To test interphysician agreement on the diagnosis of subtype of ischemic stroke, we sent subtype definitions and 18 case summaries (clinical features and pertinent laboratory data) to 24 neurologists who have a special interest in stroke, and asked them to determine the most likely subtype diagnosis. The overall agree...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.5.1021

    authors: Gordon DL,Bendixen BH,Adams HP Jr,Clarke W,Kappelle LJ,Woolson RF

    更新日期:1993-05-01 00:00:00

  • Interferon beta-1b in secondary progressive MS: a combined analysis of the two trials.

    abstract:BACKGROUND:A European (EU) and a North American (NA) placebo-controlled study with interferon beta-1b (IFNB-1b) in secondary progressive multiple sclerosis (SPMS) showed divergent results with regard to their primary outcome of sustained Expanded Disability Status Scale (EDSS) progression, while effects were similar on...

    journal_title:Neurology

    pub_type: 杂志文章,meta分析

    doi:10.1212/01.wnl.0000145561.08973.4f

    authors: Kappos L,Weinshenker B,Pozzilli C,Thompson AJ,Dahlke F,Beckmann K,Polman C,McFarland H,European (EU-SPMS) Interferon beta-1b in Secondary Progressive Multiple Sclerosis Trial Steering Committee and Independent Advisory Board.,North Ame

    更新日期:2004-11-23 00:00:00

  • Head impulse test in unilateral vestibular loss: vestibulo-ocular reflex and catch-up saccades.

    abstract:BACKGROUND:Quantitative head impulse test (HIT) measures the gain of the angular vestibulo-ocular reflex (VOR) during head rotation as the ratio of eye to head acceleration. Bedside HIT identifies subsequent catch-up saccades after the head rotation as indirect signs of VOR deficit. OBJECTIVE:To determine the VOR defi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000299117.48935.2e

    authors: Weber KP,Aw ST,Todd MJ,McGarvie LA,Curthoys IS,Halmagyi GM

    更新日期:2008-02-05 00:00:00

  • The use of "clinic room" presentation as an educational tool in the ambulatory care setting.

    abstract:OBJECTIVE:To evaluate the utility of "clinic room" case presentation in the ambulatory care setting. BACKGROUND:Neurology is increasingly an outpatient specialty. The transition from ward to clinic presents challenges for student and resident education. Interaction between attending physician and trainee is limited by...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Smith AG,Bromberg MB,Singleton JR,Forshew DA

    更新日期:1999-01-15 00:00:00

  • Bid signal pathway components are identified in the temporal cortex with Parkinson disease.

    abstract:OBJECTIVE:Parkinson disease (PD), a devastating neurodegenerative disorder, affects motor abilities and cognition as well. It is not clear whether the proapoptotic protein, Bid, is involved in tumor necrosis factor death receptor I (TNFRI)-mediated destructive signal transduction pathways such as cell dysfunction or ne...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3182703f76

    authors: Jiang H,He P,Adler CH,Shill H,Beach TG,Li R,Shen Y

    更新日期:2012-10-23 00:00:00

  • Restless legs syndrome: a predictor of lower physical function.

    abstract::Restless legs syndrome (RLS) is characterized by an urge to move the legs. The symptoms are more intense in the evening and during periods of inactivity. RLS symptoms are relieved by movement. It is classified as a sleep disorder, but in many ways it is actually a disorder of wakefulness that seems to intrude upon the...

    journal_title:Neurology

    pub_type: 评论,社论

    doi:10.1212/WNL.0000000000000298

    authors: Auerbach S,Walters AS

    更新日期:2014-04-08 00:00:00

  • Double-blind comparison of cabergoline and bromocriptine in Parkinson's disease patients with motor fluctuations.

    abstract::In the present study we compared the efficacy and safety of the new dopamine agonist cabergoline (CBG) with bromocriptine (BCR) in Parkinson's disease (PD). CBG has a very long half-life and can be administered as a single daily dose. Forty-four PD patients with uncontrolled motor fluctuations participated in the stud...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1212/wnl.47.3.785

    authors: Inzelberg R,Nisipeanu P,Rabey JM,Orlov E,Catz T,Kippervasser S,Schechtman E,Korczyn AD

    更新日期:1996-09-01 00:00:00

  • Age- and sex-specific analysis of patients with embolic stroke of undetermined source.

    abstract:OBJECTIVE:To investigate whether the correlation of age and sex with the risk of recurrence and death seen in patients with previous ischemic stroke is also evident in patients with embolic stroke of undetermined source (ESUS). METHODS:We pooled datasets of 11 stroke registries from Europe and America. ESUS was define...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004199

    authors: Ntaios G,Lip GYH,Vemmos K,Koroboki E,Manios E,Vemmou A,Rodríguez-Campello A,Cuadrado-Godia E,Roquer J,Arnao V,Caso V,Paciaroni M,Diez-Tejedor E,Fuentes B,Pérez Lucas J,Arauz A,Ameriso SF,Pertierra L,Gómez-Schneider M

    更新日期:2017-08-08 00:00:00

  • Structural brain imaging and multivariate analysis enable virtual lumbar punctures.

    abstract::Functional brain imaging has been a standard tool in the basic and clinical neurosciences for at least 2 decades, and structural brain imaging can claim an even longer track record of successful use for diagnosis of neurodegenerative disease. It is instructive to recall the ways in which brain imaging has been used to...

    journal_title:Neurology

    pub_type: 评论,社论

    doi:10.1212/WNL.0b013e31827b9305

    authors: Habeck C,Whitwell JL

    更新日期:2013-01-08 00:00:00

  • Optic neuritis in the elderly: prognosis for visual recovery and long-term follow-up.

    abstract::We evaluated 14 patients with idiopathic optic neuritis, 50 years of age or older, within 1 month of symptomatic onset from 1980 through 1985. We obtained follow-up information from case records an average of 13 months after initial examination and from telephone interviews an average of 57 months after initial evalua...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.12.1834

    authors: Jacobson DM,Thompson HS,Corbett JJ

    更新日期:1988-12-01 00:00:00

  • Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.

    abstract:OBJECTIVE:We aimed to investigate whether cognitive deficits and structural and functional connectivity changes can be detected before symptom onset in a large cohort of carriers of microtubule-associated protein tau and progranulin mutations. METHODS:In this case-control study, 75 healthy individuals (aged 20-70 year...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31828407bc

    authors: Dopper EG,Rombouts SA,Jiskoot LC,Heijer Td,de Graaf JR,Koning Id,Hammerschlag AR,Seelaar H,Seeley WW,Veer IM,van Buchem MA,Rizzu P,van Swieten JC

    更新日期:2013-02-26 00:00:00

  • Relation of EEG alpha background to parietal lobe function in Alzheimer's disease as measured by positron emission tomography and psychometry.

    abstract::Fourteen patients with Alzheimer's disease were evaluated by psychometric testing, fluorodeoxyglucose positron emission tomography (PET), and EEG. They were divided into two groups according to the EEG findings. Group A (seven patients) had normal alpha backgrounds and group B (seven patients) had decreased alpha back...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.5.747

    authors: Sheridan PH,Sato S,Foster N,Bruno G,Cox C,Fedio P,Chase TN

    更新日期:1988-05-01 00:00:00

  • Cerebral organization of affect suggested by temporal lobe seizures.

    abstract::A right-handed woman with independent left- and right-sided temporal lobe discharges was studied by continuous EEG and videotape monitoring for 3 weeks. Changes in affect were noted in the immediate and extended postictal periods and varied with the side of discharge. After a left-sided discharge, she became globally ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.35.9.1335

    authors: Hurwitz TA,Wada JA,Kosaka BD,Strauss EH

    更新日期:1985-09-01 00:00:00

  • Semantic memory activation in individuals at risk for developing Alzheimer disease.

    abstract:OBJECTIVE:To determine whether whole-brain, event-related fMRI can distinguish healthy older adults with known Alzheimer disease (AD) risk factors (family history, APOE epsilon4) from controls using a semantic memory task involving discrimination of famous from unfamiliar names. METHODS:Sixty-nine cognitively asymptom...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181b389ad

    authors: Seidenberg M,Guidotti L,Nielson KA,Woodard JL,Durgerian S,Antuono P,Zhang Q,Rao SM

    更新日期:2009-08-25 00:00:00

  • Mild behavioral impairment is linked to worse cognition and brain atrophy in Parkinson disease.

    abstract:OBJECTIVE:To evaluate the associations of mild behavioral impairment (MBI) with cognitive deficits and patterns of gray matter changes in Parkinson disease (PD). METHODS:Sixty patients with PD without dementia and 29 healthy controls underwent a cognitive neuropsychological evaluation and structural MRI scan. MBI was ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000007968

    authors: Yoon EJ,Ismail Z,Hanganu A,Kibreab M,Hammer T,Cheetham J,Kathol I,Sarna JR,Martino D,Furtado S,Monchi O

    更新日期:2019-08-20 00:00:00

  • Medial temporal lobe atrophy on MRI scans and the diagnosis of Alzheimer disease.

    abstract:BACKGROUND:Despite convenience, accessibility, and strong correlation to severity of Alzheimer disease (AD) pathology, medial temporal lobe atrophy (MTA) has not been used as a criterion in the diagnosis of prodromal and probable AD. METHODS:Using a newly validated visual rating system, mean MTA scores of three bilate...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000336925.79704.9f

    authors: Duara R,Loewenstein DA,Potter E,Appel J,Greig MT,Urs R,Shen Q,Raj A,Small B,Barker W,Schofield E,Wu Y,Potter H

    更新日期:2008-12-09 00:00:00

  • Can ethanol intoxication affect hemocoagulation to increase the risk of brain infarction in young adults?

    abstract::We studied the effects of acute ethanol intoxication on platelet function, coagulation factors, and fibrinolytic activity in 12 healthy men. During the ethanol session, 10 of the 12 developed a transient decrease in fibrinolytic activity. Ethanol ingestion increased factor VIII coagulant activity. VIII-related antigen...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.3.381

    authors: Hillbom M,Kaste M,Rasi V

    更新日期:1983-03-01 00:00:00

  • The minor symptoms of increased intracranial pressure: 101 patients with benign intracranial hypertension.

    abstract::Of 101 patients with benign intracranial hypertension not related to vasculitis, neck stiffness occurred in 31, tinnitus in 27, distal extremity paresthesias in 22, joint pains in 13, low back pain in 5, and gait "ataxia" in 4. Symptoms resolved promptly upon lowering the intracranial pressure by lumbar puncture, and ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.9.1461

    authors: Round R,Keane JR

    更新日期:1988-09-01 00:00:00

  • ALS and pet exposure.

    abstract::To examine animal exposure in ALS patients, a case-control study was undertaken on 40 ALS patients and 40 closely matched controls. Exposure to pets of any kind and to small dogs in the period from birth until 10 years before onset of ALS symptoms was significantly increased. Affected men showed a trend toward increas...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.35.5.717

    authors: Tarras S,Schenkman N,Boesch R,Mulvihill M,Caroscio JT

    更新日期:1985-05-01 00:00:00

  • Temporal reorganization to overcome monocular demyelination.

    abstract:OBJECTIVE:To identify the source of delayed visual evoked potential (VEP) latencies in the fellow eyes of patients with optic neuritis (ON) and determine whether these latencies stem from clinically silent demyelination or reflect an adaptive process for synchronization with the affected eyes. METHODS:The study sample...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3182a1aa3e

    authors: Raz N,Chokron S,Ben-Hur T,Levin N

    更新日期:2013-08-20 00:00:00

  • A presenilin 1 R278I mutation presenting with language impairment.

    abstract::Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory....

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000143060.98164.1a

    authors: Godbolt AK,Beck JA,Collinge J,Garrard P,Warren JD,Fox NC,Rossor MN

    更新日期:2004-11-09 00:00:00

  • The clinical spectrum of sarcoglycanopathies.

    abstract::A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglyca...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.52.1.176

    authors: Angelini C,Fanin M,Freda MP,Duggan DJ,Siciliano G,Hoffman EP

    更新日期:1999-01-01 00:00:00

  • Phosphatidylserine, a putative inhibitor of tumor necrosis factor, prevents autoimmune demyelination.

    abstract::We tested the effect of bovine cortex phosphatidylserine (BC-PS), a membrane phospholipid known to inhibit the release of the cytokine tumor necrosis factor (TNF), in SJL/J mice sensitized for adoptively transferred experimental autoimmune encephalomyelitis (EAE). Control, sensitized mice developed severe clinical and...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.1_part_1.153

    authors: Monastra G,Cross AH,Bruni A,Raine CS

    更新日期:1993-01-01 00:00:00

  • Hepatitis C augments cognitive deficits associated with HIV infection and methamphetamine.

    abstract:OBJECTIVE:To examine the contribution of hepatitis C virus (HCV) infection to neurocognitive dysfunction in individuals with comorbid HIV infection or methamphetamine (METH) dependence. METHODS:Neurocognitive functioning was examined in 430 study participants who were either normal controls or had HCV infection, HIV i...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.WNL.0000158328.26897.0D

    authors: Cherner M,Letendre S,Heaton RK,Durelle J,Marquie-Beck J,Gragg B,Grant I,HIV Neurobehavioral Research Center Group.

    更新日期:2005-04-26 00:00:00

  • Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.

    abstract::Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The auth...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.59.6.920

    authors: Ishikawa H,Sugie K,Murayama K,Ito M,Minami N,Nishino I,Nonaka I

    更新日期:2002-09-24 00:00:00

  • Auditory system degeneration in Alzheimer's disease.

    abstract::We observed a highly topographically specific and consistent pattern of degeneration in the auditory system of Alzheimer's disease (AD) patients. Senile plaques (SP) and neurofibrillary tangles (NFT) were distributed throughout the ventral nucleus of the medial geniculate body (MGB) and the central nucleus of the infe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.4.779

    authors: Sinha UK,Hollen KM,Rodriguez R,Miller CA

    更新日期:1993-04-01 00:00:00