Abnormalities of mitochondrial enzymes in hereditary ataxias.

Abstract:

:The activity of 7 mitochondrial enzymes, fumarase, NAD-malate dehydrogenase (MDH), citrate synthase (CS), valine dehydrogenase (VDH), succinate dehydrogenase (SDH), glutamate dehydrogenase (GDH), pyruvate dehydrogenase complex (PDHC) has been measured in platelet preparations from patients affected by Friedreich's ataxia (FA), dominant and non-dominant olivopontocerebellar atrophy (DOPCA, NDOPCA) and normal individuals. Significant decreases of GDH (P less than 0.01), PDHC (P less than 0.01), VDH (P less than 0.05) and SDH (P less than 0.05) activities were observed in FA patients. Significant decreases of GDH (P less than 0.01), PDHC (P less than 0.01), VDH (P less than 0.05), SDH (P less than 0.05) and CS (P less than 0.05) activities were Observed in ND-OPCA patients, whereas in DOPCA patients only GDH activity was significantly (P less than 0.05) decreased. In 8 of 10 patients with FA and in all patients with NDOPCA the activity of one or more of 4 enzymes, i.e. GDH, VDH, SDH, PDHC, was lower than the lowest of control values. Four of 6 patients with DOPCA had GDH activity lower than the lowest of control values. These results indicate that abnormalities of mitochondrial metabolism is a constant element in hereditary ataxia and suggest that the alteration primary leading to the different types of ataxias should be related to mitochondrial oxidative metabolism, at least at a regulatory level.

journal_name

Acta Neurol Scand

authors

Sorbi S,Piacentini S,Fani C,Tonini S,Marini P,Amaducci L

doi

10.1111/j.1600-0404.1989.tb03849.x

subject

Has Abstract

pub_date

1989-08-01 00:00:00

pages

103-10

issue

2

eissn

0001-6314

issn

1600-0404

journal_volume

80

pub_type

杂志文章
  • Pediatric frontal lobe epilepsy: white matter abnormalities and cognitive impairment.

    abstract:OBJECTIVES:Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE). Its etiology remains unknown. With diffusion tensor imaging, we have studied cerebral white matter properties and associations with cognitive functioning in children with FLE and healthy controls. METHODS:Thirty children aged 8-1...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12183

    authors: Braakman HM,Vaessen MJ,Jansen JF,Debeij-van Hall MH,de Louw A,Hofman PA,Vles JS,Aldenkamp AP,Backes WH

    更新日期:2014-04-01 00:00:00

  • Phenytoin, phenobarbital, and midazolam fail to stop status epilepticus-like activity induced by low magnesium in rat entorhinal slices, but can prevent its development.

    abstract:OBJECTIVES:It was shown previously that low-Mg2+-induced epileptiform activity in rat entorhinal cortex slices changes with time from a pattern of serial seizure-like events (SLEs) to a state of continuously recurring epileptiform activity. Valproic acid blocked the early SLEs but not the late activity. It was proposed...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1998.tb07286.x

    authors: Dreier JP,Zhang CL,Heinemann U

    更新日期:1998-09-01 00:00:00

  • Treatment of tardive dyskinesia with levetiracetam in a transplant patient.

    abstract:OBJECTIVE:To describe successful treatment of tardive dyskinesia with levetiracetam. BACKGROUND:Tardive dyskinesia is a late-onset movement disorder caused by exposure to dopamine receptor blocking agents, most commonly neuroleptics. Metoclopramide is frequently used to treat gastrointestinal dysmotility. It has antid...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2007.00950.x

    authors: Zivković SA,Costa G,Bond G,Abu-Elmagd KM

    更新日期:2008-05-01 00:00:00

  • Season of birth and multiple sclerosis in Sweden.

    abstract:OBJECTIVE:To estimate the risk of multiple sclerosis (MS) by month of birth in Sweden. MATERIALS AND METHODS:Cases (n = 9361) were obtained from the Swedish MS Registry. All births in Sweden 1900-2007 served as controls (n = 12,116,853). The risk of MS was analyzed for each month of birth separately compared with birt...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2009.01181.x

    authors: Salzer J,Svenningsson A,Sundström P

    更新日期:2010-01-01 00:00:00

  • Bilateral mesial temporal lobe epilepsy: comparison of scalp EEG and hippocampal MRI-T2 relaxometry.

    abstract:OBJECTIVE:Bilateral hippocampal abnormality is frequent in mesial temporal lobe sclerosis and might affect outcome in epilepsy surgery. The objective of this study was to compare the lateralization of interictal and ictal scalp EEG with MRI T2 relaxometry. MATERIAL AND METHODS:Forty-nine consecutive patients with intr...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2004.00305.x

    authors: Okujava M,Schulz R,Hoppe M,Ebner A,Jokeit H,Woermann FG

    更新日期:2004-09-01 00:00:00

  • Benign muscular dystrophy with contractures: a new syndrome?

    abstract::Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal d...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1986.tb03302.x

    authors: Bailey RO,Dentinger MP,Toms ME,Hans MB

    更新日期:1986-04-01 00:00:00

  • Cerebrospinal fluid levels of cyclic nucleotides in meningitis and idiopathic polyneuritis.

    abstract::Cyclic adenosine 3',5'-monophosphate (cAMP) and cyclic guanosine 3',5'-monophosphate (cGMP) were measured in cerebrospinal fluid (CSF) and plasma from 7 patients with bacterial meningitis, 9 patients with serous meningitis, 5 patients with idiopathic polyneuritis and 15 reference patients. A significantly (P less than...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1984.tb07796.x

    authors: Lerche A,Svenson M,Wiik A

    更新日期:1984-03-01 00:00:00

  • Circulating nociceptin and CGRP in medication-overuse headache.

    abstract:BACKGROUND:Previous studies found low serum levels of nociceptin in migraine patients but high serum levels of calcitonin gene-related peptide (CGRP). CGRP can elicit migraine-like headache. Medication-Overuse Headache (MOH) often has migraine features and can mimic chronic migraine. We therefore hypothesized that as i...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.13053

    authors: Munksgaard SB,Ertsey C,Frandsen E,Bendtsen L,Tekes K,Jensen RH

    更新日期:2019-03-01 00:00:00

  • Neurophysiologic evaluation of cyclosporine toxicity associated with bone marrow transplantation.

    abstract:INTRODUCTION:Cortical blindness, a rare form of cyclosporine (CSA) neurotoxicity, has previously been described in only nine bone marrow transplant (BMT) recipients. METHODS:Our institution averages 35 allogeneic BMT's per year. In the past year we have seen two women with reversible cortical blindness secondary to CS...

    journal_title:Acta neurologica Scandinavica

    pub_type: 更正并重新发布的文章,杂志文章,评审

    doi:10.1111/j.1600-0404.1996.tb07081.x

    authors: Edwards LL,Wszolek ZK,Normand MM

    更新日期:1996-11-01 00:00:00

  • Diagnosis of multiple sclerosis: comparison of the Poser criteria and the new McDonald criteria.

    abstract:OBJECTIVES:A confident and accurate diagnosis of multiple sclerosis (MS) is important, but a specific diagnostic test for the disease does not exist. The traditional diagnostic criteria of Poser et al. were published in 1983, and recently, McDonald et al. recommended new criteria for the diagnosis of MS. PATIENTS AND ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2004.00246.x

    authors: Fangerau T,Schimrigk S,Haupts M,Kaeder M,Ahle G,Brune N,Klinkenberg K,Kotterba S,Möhring M,Sindern E,Multiple Sclerosis Study Group.

    更新日期:2004-06-01 00:00:00

  • A large Japanese family with Machado-Joseph disease: clinical and genetic studies.

    abstract::A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, ext...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1989.tb03741.x

    authors: Takiyama Y,Ikemoto S,Tanaka Y,Mizuno Y,Yoshida M,Yasuda N

    更新日期:1989-03-01 00:00:00

  • Determinants of post-stroke cognitive impairment: analysis from VISTA.

    abstract:BACKGROUND:Post-stroke cognitive impairment (PSCI) occurs commonly and is linked with development of dementia. We investigated the relationship between demographic, clinical and stroke symptoms at stroke onset and the presence of PSCI at 1 and 3 years after stroke. METHODS:We accessed anonymized data from the Virtual ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12637

    authors: Arba F,Quinn T,Hankey GJ,Inzitari D,Ali M,Lees KR,VISTA Collaboration.

    更新日期:2017-06-01 00:00:00

  • Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy.

    abstract::X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis on...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb04015.x

    authors: Holmberg BH,Hägg E,Duchek M,Hagenfeldt L

    更新日期:1992-02-01 00:00:00

  • The Gulf War era multiple sclerosis cohort: 3. Early clinical features.

    abstract:OBJECTIVES:To present clinical features at diagnosis for a large nationwide incident cohort of multiple sclerosis (MS) among those serving in the US military during the Gulf War era (GWE). MATERIALS & METHODS:Medical records and databases from the Department of Veterans Affairs (VA) for cases of MS with onset in or af...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12810

    authors: Wallin MT,Culpepper WJ,Maloni H,Kurtzke JF

    更新日期:2018-01-01 00:00:00

  • Etiology and management of single small CT lesions in patients with seizures: understanding a controversy.

    abstract::Single, small (less than 1 cm) enhancing lesions are frequent findings on CT scans of Indian patients with seizures. These lesions have also been reported in patients from other parts of the world. They often resolve spontaneously and their etiology has been disputed for over a decade. Initially diagnosed in Indian pa...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,评审

    doi:10.1111/j.1600-0404.1991.tb04996.x

    authors: Rajshekhar V

    更新日期:1991-12-01 00:00:00

  • SPECT studies of regional cerebral blood flow in 8 patients with Japanese encephalitis in subacute and chronic stage.

    abstract:OBJECTIVE:There is a paucity of regional cerebral blood flow studies in Japanese encephalitis (JE). In this communication we report clinical, radiological and single photon emission computed tomography findings in subacute and chronic JE patients. MATERIAL AND METHODS:Eight JE patients whose ages ranged between 10 and...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1999.tb07349.x

    authors: Kalita J,Das BK,Misra UK

    更新日期:1999-04-01 00:00:00

  • Treatment of status epilepticus and acute repetitive seizures with i.v. valproic acid vs phenytoin.

    abstract:OBJECTIVE:To evaluate the efficacy and tolerability of the treatment with valproic acid (VPA) in patients with status epilepticus (SE) or acute repetitive seizures (ARS) comparing it with phenytoin (PHT) treatment. MATERIALS AND METHODS:Patients with SE or ARS were treated in a consecutive manner with either VPA or PH...

    journal_title:Acta neurologica Scandinavica

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1600-0404.2008.01097.x

    authors: Gilad R,Izkovitz N,Dabby R,Rapoport A,Sadeh M,Weller B,Lampl Y

    更新日期:2008-11-01 00:00:00

  • Immediate prognosis of primary intracerebral hemorrhage using an easy model for the prediction of survival.

    abstract::We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intrav...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1995.tb07011.x

    authors: Masè G,Zorzon M,Biasutti E,Tasca G,Vitrani B,Cazzato G

    更新日期:1995-04-01 00:00:00

  • Cognition in non-demented Parkinson's disease vs essential tremor: A population-based study.

    abstract:OBJECTIVES:Patients with Parkinson's disease (PD) and essential tremor (ET) have a higher risk of cognitive impairment than age-matched controls. Only a few small studies (11-18 subjects per group) have directly compared the cognitive profile of these conditions. Our aim was to compare the cognitive profile of patients...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12752

    authors: Sánchez-Ferro Á,Benito-León J,Louis ED,Contador I,Hernández-Gallego J,Puertas-Martín V,Bermejo-Pareja F

    更新日期:2017-11-01 00:00:00

  • Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with senile dementia of Alzheimer type.

    abstract::The possibility of disturbed dopamine and serotonin metabolism in senile dementia of Alzheimer type was studied. The basal concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) were studied in 28 patients with senile dementia of Alzheimer type and in 13 controls...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1981.tb04392.x

    authors: Soininen H,MacDonald E,Rekonen M,Riekkinen PJ

    更新日期:1981-08-01 00:00:00

  • A further study on the prevalence of multiple sclerosis in Sicily: Caltanissetta city.

    abstract::The prevalence of probable multiple sclerosis (MS) in Caltanissetta city, Sicily, is at least 51 per 100,000. If possible multiple sclerosis patients are included, it is 54 per 100,000. This value is similar to that found in other cities in Sicily: Enna, Monreale and Agrigento. The high prevalence of multiple sclerosi...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1986.tb03243.x

    authors: Savettieri G,Elian M,Giordano D,Grimaldi G,Ventura A,Dean G

    更新日期:1986-01-01 00:00:00

  • Body temperature and major neurological improvement in tPA-treated stroke patients.

    abstract:BACKGROUND:Major neurological improvement (MNI) at 24 hours represents a marker of early recanalization in ischaemic stroke. Although low body temperature is considered neuroprotective in cerebral ischaemia, some studies have suggested that higher body temperature may promote clot lysis in the acute phase of ischaemic ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12184

    authors: Kvistad CE,Thomassen L,Waje-Andreassen U,Logallo N,Naess H

    更新日期:2014-05-01 00:00:00

  • Effect of the alpha-adrenergic blocking agent thymoxamine on the neurogenic bladder and urethra.

    abstract::The effect of the alpha-adrenergic blocking agent thymoxamine by intravenous administration was studied in 25 patients with spastic paraplegia and uninhibited neurogenic bladder. By cystometry a shift to the right of the first desire to void, the threshold of the first uninhibited contraction and a reduction of the pr...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1980.tb01472.x

    authors: Pedersen E,Tørring J,Klemar B

    更新日期:1980-02-01 00:00:00

  • Computed tomography (CT) in late infantile metachromatic leucodystrophy.

    abstract::Computed tomographic features of 7 cases of the late infantile form of MLD confirmed by sural nerve biopsy are presented. Diffuse symmetrical white matter, low attenuation of the cerebral parenchyma was the common feature. Hypodensity of the temporal lobes and the cerebellar hemispheres are 2 features which have not b...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1989.tb03704.x

    authors: Jayakumar PN,Aroor SR,Jha RK,Arya BY

    更新日期:1989-01-01 00:00:00

  • Diagnostic investigations in MS: which is the most sensitive?

    abstract::In an attempt to establish the efficacy of the different diagnostic tests, 41 multiple sclerosis (MS) patients at different stages of the disease were studied by means of visual evoked potential (VEP) recording, T-lymphocyte subset determination cerebrospinal fluid (CSF) analysis and magnetic resonance (MR) imaging. M...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1989.tb03900.x

    authors: Sola P,Scarpa M,Faglioni P,Sorgato P,Merelli E

    更新日期:1989-11-01 00:00:00

  • Health-related quality of life in blepharospasm or hemifacial spasm.

    abstract:OBJECTIVES:Health-related quality of life (HRQL) has become an important outcome criterion of medical interventions, but was hardly studied in patients with facial spasms. MATERIALS AND METHODS:Patients with blepharospasm or hemifacial spasm treated with botulinum toxin were included. A healthy control group sociodemo...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2004.00357.x

    authors: Reimer J,Gilg K,Karow A,Esser J,Franke GH

    更新日期:2005-01-01 00:00:00

  • Antivirus immune activity in multiple sclerosis correlates with MRI activity.

    abstract:OBJECTIVE:The objective of this study was to determine whether reactivation of Epstein-Barr (EBV) or activation of the anti-EBV immune response correlates with MS disease activity on MR imaging. METHODS:Subjects with early, active relapsing-remitting MS were studied for 16 weeks with blood and saliva samples collected...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12417

    authors: Latham LB,Lee MJ,Lincoln JA,Ji N,Forsthuber TG,Lindsey JW

    更新日期:2016-01-01 00:00:00

  • Multiple sclerosis siblings with cerebrospinal fluid immunopathy but without any indication of neuronal damage.

    abstract:OBJECTIVE:In a previous study, we found that nine of the 47 siblings to multiple sclerosis (MS) patients with a normal neurologic examination carry an intrathecal oligoclonal immunopathy with limited specificity, a condition we termed MS immunopathic trait. Here we searched for neurological dysfunction with increased s...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1034/j.1600-0404.2003.00130.x

    authors: Haghighi S,Frisén L,Odén A,Andersen O

    更新日期:2003-11-01 00:00:00

  • Cardiovascular dysautonomia in Parkinson's disease and multiple system atrophy.

    abstract:OBJECTIVES:To determine whether Parkinson's disease (PD) can be distinguished from multiple system atrophy (MSA) on the basis of the assessment of iodine-123 meta-iodobenzylguanidine (123I-MIBG) radioactivity in heart and cardiovascular autonomic function. PATIENTS AND METHODS:Seventeen patients with MSA, 39 with PD, ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,收录出版

    doi:10.1111/j.1600-0404.2005.00526.x

    authors: Oka H,Mochio S,Yoshioka M,Morita M,Onouchi K,Inoue K

    更新日期:2006-04-01 00:00:00

  • Patients with homocystinuria: high metal concentrations in hair, blood and urine.

    abstract::Patients with homocystinuria excrete a large amount of metal in their urine. Homocysteine similar to penicillamine, administration to methylmercury treated rats resulted in a large amount of urinary methylmercury excretion. These results suggested that the total metal amounts in the whole body of patients with homocys...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb05130.x

    authors: Yoshida Y,Nakano A,Hamada R,Kamitsuchibashi H,Yamamoto K,Akagi H,Kitazono M,Osame M

    更新日期:1992-11-01 00:00:00