Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Abstract:

OBJECTIVES:To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNAAsn gene (MT-TN), which have not previously been published with clinical descriptions. MATERIALS & METHODS:Two unrelated patients with PEO were clinically examined. Muscle biopsy was performed and investigated by exome sequencing, enzyme histochemistry, and immunohistochemistry. The level of heteroplasmy was investigated in single muscle fibers and in other tissues. RESULTS:Patient 1 was a 52-year-old man with ptosis, PEO, and exercise intolerance since childhood. Muscle biopsy demonstrated mitochondrial myopathy with frequent cytochrome c oxidase (COX)-deficient fibers and a heteroplasmic mutation, m.5669G>A in the MT-TN gene, resulting in a substitution of a highly conserved C to T in the T stem of tRNAAsn . Patient 2 was a 66-year-old woman with ptosis, PEO, and exercise intolerance since many years. Muscle biopsy demonstrated mitochondrial myopathy with frequent COX-deficient fibers. She had a novel m.5702delA mutation in MT-TN, resulting in loss of a highly conserved U in the anticodon stem of tRNAAsn . Single fiber analysis in both cases showed highly significant differences in mutation load between COX-deficient and COX-normal fibers and a high threshold level for COX deficiency. The mutations were not found in blood, urine sediment or buccal cells. CONCLUSION:We describe two MT-TN mutations associated with PEO and mitochondrial myopathy, and their pathogenicity was demonstrated. Together with previous reports, the results indicate that MT-TN is a hot spot for mutations causing sporadic PEO.

journal_name

Acta Neurol Scand

authors

Visuttijai K,Hedberg-Oldfors C,Lindgren U,Nordström S,Elíasdóttir Ó,Lindberg C,Oldfors A

doi

10.1111/ane.13339

subject

Has Abstract

pub_date

2020-08-31 00:00:00

eissn

0001-6314

issn

1600-0404

pub_type

杂志文章
  • Impact of recently diagnosed multiple sclerosis on quality of life, anxiety, depression and distress of patients and partners.

    abstract:OBJECTIVES:Studies demonstrating reduced quality of life and psychological well-being in multiple sclerosis (MS) have typically investigated patients within more advanced stages of disease. The aim of the present paper was to evaluate the emotional burden and quality of life of recently diagnosed MS patients and their ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1034/j.1600-0404.2003.00166.x

    authors: Janssens AC,van Doorn PA,de Boer JB,van der Meché FG,Passchier J,Hintzen RQ

    更新日期:2003-12-01 00:00:00

  • Audit of use of stiripentol in adults with Dravet syndrome.

    abstract:OBJECTIVES:There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in a...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12611

    authors: Balestrini S,Sisodiya SM

    更新日期:2017-01-01 00:00:00

  • Serum sAPO-1/Fas levels in multiple sclerosis.

    abstract:UNLABELLED:Soluble APO-1 (sAPO-1) may prevent apoptosis of lymphocytes induced by activation of the APO-1/Fas receptor. OBJECTIVES:To determine sAPO-1 levels in the serum of multiple sclerosis (MS) patients and controls in order to investigate if abnormal lymphocyte apoptosis occurs in this disease. METHODS:Serum sam...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1997.tb00100.x

    authors: Bansil S,Holtz CR,Cook SD,Rohowsky-Kochan C

    更新日期:1997-04-01 00:00:00

  • Prediction of cerebral outcome after extracorporeal circulation.

    abstract::50 open-heart patients were investigated using simultaneous clinical, electroencephalographical (EEG) and neuropsychological evaluation in order to assess the possibilities of predicting the postoperative outcome with preoperative measures. The presence of one or more of the following indices was prognostically unfavo...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1982.tb04535.x

    authors: Sotaniemi K

    更新日期:1982-12-01 00:00:00

  • Conduction aphasia and arcuate fasciculus.

    abstract::Three patients are presented who developed conduction aphasia after a small infarction almost exclusively confined to the arcuate fasciculus. All of them were diagnosed as conduction aphasia within a week after the stroke and showed a rapid amelioration. On the basis of the 3 patients and conduction aphasics in the li...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1987.tb03597.x

    authors: Tanabe H,Sawada T,Inoue N,Ogawa M,Kuriyama Y,Shiraishi J

    更新日期:1987-12-01 00:00:00

  • Anterior ischaemic optic neuropathy secondary to cluster headache.

    abstract::This report describes a patient with cluster headache who developed anterior ischaemic optic neuropathy during an attack of headache, an association not previously described. A possible pathophysiologic mechanism based upon the understanding of optic disc physiology and ocular vascular pathology in headache syndromes ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1986.tb03266.x

    authors: Toshniwal P

    更新日期:1986-02-01 00:00:00

  • CSF neurotransmitter metabolites and short-term outcome of patients in coma after head injury.

    abstract::The main metabolites of the neurotransmitters noradrenaline, dopamine, and serotonin, methoxy-hydroxyphenylglycol (MHPG), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5HIAA) respectively, were estimated by HPLC with electrochemical detection in CSF samples from 24 patients in coma after head injury, 1 to 1...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb05064.x

    authors: Markianos M,Seretis A,Kotsou S,Baltas I,Sacharogiannis H

    更新日期:1992-08-01 00:00:00

  • Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia.

    abstract:BACKGROUND:Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess. OBJECTIVE:To estimate the risk of cerebral abs...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12167

    authors: Kjeldsen AD,Tørring PM,Nissen H,Andersen PE

    更新日期:2014-03-01 00:00:00

  • In vivo microstructural white matter changes in early spinocerebellar ataxia 2.

    abstract:OBJECTIVE:White matter (WM) integrity of Spinocerebellar ataxia 2 (SCA2) is poorly understood, more so in the early stages of SCA2. In this study, we evaluated the microstructural integrity of the WM tracts with an emphasis on the nature of in vivo pathological involvement in early SCA2. MATERIALS AND METHODS:We evalu...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.13359

    authors: Stezin A,Bhardwaj S,Khokhar S,Hegde S,Jain S,Bharath RD,Saini J,Pal PK

    更新日期:2020-10-08 00:00:00

  • EEG in the differential diagnosis between Alzheimer's disease and vascular dementia.

    abstract::Demented patients with Alzheimer's disease (AD) (n = 67), multi-infarct dementia (MID) (n = 77) and probable vascular dementia (PVD) (n = 45) were studied with electroencephalography (EEG). All patients underwent a routine EEG examination and quantitative EEG was recorded from 14 patients with AD, 20 with MID, and 12 ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1988.tb06971.x

    authors: Erkinjuntti T,Larsen T,Sulkava R,Ketonen L,Laaksonen R,Palo J

    更新日期:1988-01-01 00:00:00

  • Regional cerebral blood flow in various types of brain tumor. Effect of the space-occupying lesion on blood flow in brain tissue close to and remote from tumor site.

    abstract::Regional cerebral blood flow (rCBF) was measured in 23 patients with brain tumors using the 133Xe intra-carotid injection method and a 254 channel gamma camera. The glioblastomas (4) and astrocytomas (4) all showed hyperemia in the tumor and tumor-near region. This was also seen in several meningiomas (4 of 7 cases) i...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1982.tb04513.x

    authors: Kuroda K,Skyhøj Olsen T,Lassen NA

    更新日期:1982-08-01 00:00:00

  • Clinical neurological findings among metal degreasers exposed to chlorinated solvents.

    abstract::Among industrial solvents in present use trichloroethylene belongs to those which have been the concern of most neurological and occupational investigations since the beginning of this century. Reports on a broad spectrum of neurotoxicity are however mostly based on case-studies and accidental circumstances. The objec...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1993.tb04101.x

    authors: Rasmussen K,Arlien-Søborg P,Sabroe S

    更新日期:1993-03-01 00:00:00

  • Effects of MRI abnormalities on WAIS-R performance in solvent abusers.

    abstract:OBJECTIVE:To clarify how chronic solvent abuse affects cognitive function using magnetic resonance imaging as an index of brain damage. MATERIAL AND METHODS:A total of 25 chronic solvent abusers underwent magnetic resonance imaging with quantitative neurometry and Wechsler Adult Intelligence Scales revised. RESULTS:T...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1997.tb00235.x

    authors: Yamanouchi N,Okada S,Kodama K,Sakamoto T,Sekine H,Hirai S,Murakami A,Komatsu N,Sato T

    更新日期:1997-07-01 00:00:00

  • Efficacy and safety of rituximab in autoimmune encephalitis: A meta-analysis.

    abstract:BACKGROUND:Autoimmune encephalitis (AE) is a rare but debilitating neurological disease where the body develops antibodies against neuronal cell surface/synaptic proteins. Rituximab is an anti-CD20 chimeric monoclonal antibody which shows promise in AE treatment observational studies. To our knowledge, there has been n...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,meta分析,评审

    doi:10.1111/ane.13291

    authors: Nepal G,Shing YK,Yadav JK,Rehrig JH,Ojha R,Huang DY,Gajurel BP

    更新日期:2020-11-01 00:00:00

  • A study of right unilateral spatial neglect in left hemispheric lesions: the difference between right-handed and non-right-handed post-stroke patients.

    abstract::We report 20 cases of right unilateral spatial neglect caused by lesions in the left cerebral hemisphere. Differences in neuropsychological symptoms and lesions sites are discussed in connection with handedness. Of the right-handed patients, 6 had severe aphasia, 4 had Gerstmann's syndrome, and 1 had pure agraphia, bu...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb06040.x

    authors: Maeshima S,Shigeno K,Dohi N,Kajiwara T,Komai N

    更新日期:1992-06-01 00:00:00

  • Optic atrophy in experimental vitamin B12 deficiency in monkeys.

    abstract::The clinical findings and pathological changes of the visual pathway of vitamin B12 deficient monkeys have been described. The cellular morphology and counts of the peripheral blood and bone marrow remained normal during the study (nine deficient, three controls: one still alive in each group). Visual impairment was n...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1980.tb02991.x

    authors: Chester EM,Agamanolis DP,Harris JW,Victor M,Hines JD,Kark JA

    更新日期:1980-01-01 00:00:00

  • Experimental studies and controlled clinical testing of valproate and vigabatrin.

    abstract::Gamma-aminobutyric acid (GABA) is the most important inhibitory transmitter, quantitatively, in the CNS. Evidence exists that decreased GABAergic neurotransmission may play a role in some forms of epilepsy. Consequently, manipulating the GABA system may be a therapeutic possibility in the treatment of this disease. In...

    journal_title:Acta neurologica Scandinavica

    pub_type: 临床试验,杂志文章,评审

    doi:10.1111/j.1600-0404.1988.tb03655.x

    authors: Gram L

    更新日期:1988-10-01 00:00:00

  • Pseudotumor cerebri. A theory on etiology and pathogenesis.

    abstract::Ten patients with pseudotumor cerebri were studied. The diagnosis was based on bilateral papilledema and absence of intracranial masses and hydrocephalus. Based on the radiological findings, three groups of patients emerged: (A) Five patients with an empty sella. Four had an enlarged sella; (B) Two patients with a pit...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1982.tb06869.x

    authors: Bjerre P,Lindholm J,Gyldensted C

    更新日期:1982-10-01 00:00:00

  • Utility of hospitalization following a first unprovoked seizure.

    abstract:OBJECTIVES:Hospital admission in otherwise healthy patients following a first unprovoked seizure is controversial. We aimed to evaluate the influence of admission in a neurology department on the identification of risk factors for seizure recurrence in patients with a first unprovoked seizure. MATERIALS AND METHODS:We...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12079

    authors: Goldberg I,Neufeld MY,Auriel E,Gandelman-Marton R

    更新日期:2013-07-01 00:00:00

  • Experimental facial myokymia in cat.

    abstract:INTRODUCTION:The objective of this study was to describe facial myokymia in experimental animals accompanying kainic acid affects on facial motor neurons. MATERIAL & METHODS:Anesthetized cats were injected with kainic acid into the pons adjacent to the facial nucleus. Facial movements appeared shortly after the inject...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1997.tb00062.x

    authors: Zaaroor M,Starr A

    更新日期:1997-01-01 00:00:00

  • Types of occult cancer in stroke and the relation to smoking.

    abstract:OBJECTIVES:Stroke is associated with a higher risk of occult cancer. We studied the types of occult cancer most often associated with stroke. MATERIALS AND METHODS:All patients with incident stroke in Denmark 2003-2015 were identified through the Danish Stroke Registry (n = 85 893) and matched 1:10 on age and sex to t...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.13299

    authors: Tybjerg AJ,Babore AD,Olsen TS,Andersen KK

    更新日期:2020-11-01 00:00:00

  • CT and MRI in late-onset metachromatic leukodystrophy.

    abstract::A 23-year-old patient suffering from mental deterioration was referred for CT study following her first epileptic fit. The study disclosed generalized atrophy and diffuse symmetric white matter hypodensities. Similar findings were found in her 13-year-old retarded sister. The diagnosis of metachromatic leukodystrophy ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1987.tb07891.x

    authors: Reider-Grosswasser I,Bornstein N

    更新日期:1987-01-01 00:00:00

  • EEG in presenile dementia related to cerebral blood flow and autopsy findings.

    abstract::EEG, regional cerebral blood flow (rCBF) and neuropathological autopsy data were studied in 17 patients with presenile dementia. RCBF was measured in 14 cases using the intra-arterial-133-Xenon clearance technique. The neuropathological study included semi-serial whole brain microscopical sections in which the severit...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1977.tb01414.x

    authors: Jóhannesson G,Brun A,Gustafson I,Ingvar DH

    更新日期:1977-08-01 00:00:00

  • Protein patterns of the cerebrospinal fluid of 30 patients with subacute sclerosing panencephalitis (SSPE).

    abstract::Lumbar cerebrospinal fluid (CSF) from 30 cases of subacute sclerosing panencephalitis (SSPE) was studied for total protein and protein electrophoresis. Total CSF protein values were normal in almost all the cases, but the gamma-globulin was increased and had an oligoclonal morphology in all the cases. Absolute and rel...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1981.tb00779.x

    authors: Silva CA,Rio ME,Cruz C

    更新日期:1981-04-01 00:00:00

  • Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene.

    abstract::Eighteen Swedish patients with familial amyloidotic polyneuropathy were tested for the met30 mutation of the transthyretin (TTR) (prealbumin) gene by RFLP analysis of genomic DNA using the restriction enzyme NsiI. The results confirmed previous findings that the Swedish variant of familial polyneuropathy has the same ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1993.tb04090.x

    authors: Holmgren G,Lundgren E,Kangawa K,Kurihara T,Matsukura S,Matsuo H,Nakazato M,Steen L

    更新日期:1993-02-01 00:00:00

  • Burden and cost of neurological diseases: a European North-South comparison.

    abstract:OBJECTIVES:To address the relationship between years lived with a disability (YLDs), prevalence and cost of neurological diseases, and to test whether there is a European North-South gradient for national health expenditure, disability, costs and prevalence of neurological diseases. MATERIALS AND METHODS:Information o...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12339

    authors: Raggi A,Leonardi M

    更新日期:2015-07-01 00:00:00

  • Manifesting carrier of Becker muscular dystrophy (BMD): clinical and recombinant DNA studies.

    abstract::We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombin...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1989.tb03821.x

    authors: Ionasescu VV,Searby CC,Ionasescu R

    更新日期:1989-06-01 00:00:00

  • Preclinical evidence of Alzheimer changes in progressive mild cognitive impairment: a qualitative and quantitative SPECT study.

    abstract:OBJECTIVES:Baseline brain single-photon emission computed tomography (SPECT) can predict mild cognitive impairment (MCI) patients at risk for progressive MCI (PMCI). METHODS:Twenty-eight subjects [12 MCI, 6 with probable Alzheimer's Disease (AD), and 10 normal subjects] underwent baseline brain SPECT and were clinical...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2006.00661.x

    authors: Ishiwata A,Sakayori O,Minoshima S,Mizumura S,Kitamura S,Katayama Y

    更新日期:2006-08-01 00:00:00

  • Cysticercosis of the cerebellopontine angle cistern mimicking epidermoid inclusion cyst.

    abstract::We report a case of a cystic lesion in the left cerebellopontine (CP) angle cistern. The magnetic resonance (MR) imaging features closely resembled an epidermoid inclusion cyst, and was interpreted as such. However, at surgery and on histopathological examination the lesion was found to be a cysticercus cyst. It may b...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1999.tb07359.x

    authors: Singh S,Gibikote SV,Bannur U,Chacko G,Korah IP,Rajshekhar V

    更新日期:1999-04-01 00:00:00

  • Steroid treatment for relapses in multiple sclerosis - the evidence urges shared decision-making.

    abstract:OBJECTIVES:Therapy of acute relapses in multiple sclerosis with corticosteroids (CC) remains uncertain with respect to route, dosage and effectiveness. This makes the treatment of relapses a clinical field where 'shared decision-making (SDM)' could be of advantage for the patients. A prerequisite for SDM is the provisi...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,评审

    doi:10.1111/j.1600-0404.2004.00284.x

    authors: Köpke S,Heesen C,Kasper J,Mühlhauser I

    更新日期:2004-07-01 00:00:00