当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.

Abstract：

:We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new minor deficits, while worsening of previous symptoms was mild. Brain MRI revealed cerebellar atrophy, diffuse demyelination of corona radiata and parietal white matter, and bilateral and symmetrical putaminal lesions. The proportion of mutant mtDNAs in blood was 72% (+/-0.02%) and in skeletal muscle was 81% (+/-0.4%). Leigh-like syndrome caused by the T8993G mtDNA mutation is a progressive disease, although not necessarily associated with an aggressive clinical course.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Sobreira C,Marques W Jr,Pontes Neto OM,Santos AC,Pina Neto JM,Barreira AA

doi

10.1016/j.jns.2008.11.023

subject

Has Abstract

pub_date

2009-03-15 00:00:00

pages

132-4

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(08)00587-X

journal_volume

278

pub_type

杂志文章

相关文献

JOURNAL OF THE NEUROLOGICAL SCIENCES文献大全
  • LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

    abstract：BACKGROUND/OBJECTIVES:Recently, a genome-wide association study revealed a significant statistical association between LINGO1 rs9652490 and rs11856808 polymorphisms and the risk of developing essential tremor (ET) in Icelandic people. Because the results of further association studies were controversial, we conducted a...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.jns.2012.02.030

    authors： Jiménez-Jiménez FJ,García-Martín E,Lorenzo-Betancor O,Pastor P,Alonso-Navarro H,Agúndez JA

    更新日期：2012-06-15 00:00:00

  • Cerebrovascular lesions in elderly Japanese patients with Alzheimer's disease.

    abstract：OBJECTIVE:Cerebrovascular lesions (CVLs) are known to play important roles in the pathophysiology underlying Alzheimer's disease (AD), especially in elderly AD cases. The present study was conducted to elucidate the relationship between the CVLs and vascular risk factors (VRFs) in elderly Japanese patients with AD. SU...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2012.07.001

    authors： Nagata K,Takano D,Yamazaki T,Maeda T,Satoh Y,Nakase T,Ikeda Y

    更新日期：2012-11-15 00:00:00

  • Anoxia in vitro does not induce neuronal swelling or death.

    abstract：:To improve the understanding of neuronal cell swelling in cerebral ischemia, cell volume regulation, viability, intracellular electrolytes, and lactate production of Neuro-2A neuroblastoma cells were studied using an in vitro model. The volume regulatory capacity of Neuro-2A cells was assessed after incubation in hypo...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：

    authors： Mackert BM,Staub F,Peters J,Baethmann A,Kempski O

    更新日期：1996-07-01 00:00:00

  • Understanding regulation of nerve cell death by mGluRs as a method for development of successful neuroprotective strategies.

    abstract：:A common cause of nerve cell death often leading to vascular dementia is ischemic stroke. Attempts to develop clinically effective stroke treatment and prevention strategies based on pharmacological manipulations of a single mechanism have not led to clinical success. Analysis of clinical neuroprotection trials sugges...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2004.11.028

    authors： Baskys A,Blaabjerg M

    更新日期：2005-03-15 00:00:00

  • Methylprednisolone increases dystrophin levels by inhibiting myotube death during myogenesis of normal human muscle in vitro.

    abstract：:The glucocorticoid methylprednisolone (Mepd) increased dystrophin and myosin heavy chain levels in differentiated cultures of cloned human myoblasts. Mepd increased the number of myotubes per area by preventing myotube death and detachment during myogenesis in vitro. Myotube death was the result of an endogenous proce...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(91)90019-4

    authors： Sklar RM,Brown RH Jr

    更新日期：1991-01-01 00:00:00

  • Neuronal NOS is dislocated during muscle atrophy in amyotrophic lateral sclerosis.

    abstract：:Previously, we demonstrated that neuronal nitric oxide synthase (nNOS) is activated and promotes muscle atrophy in skeletal muscle during tail suspension, a model of unloading and denervation. Here, we examined patients with amyotrophic lateral sclerosis (ALS) and mutant (H46R) SOD1 transgenic (Tg) mice model using im...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2010.03.022

    authors： Suzuki N,Mizuno H,Warita H,Takeda S,Itoyama Y,Aoki M

    更新日期：2010-07-15 00:00:00

  • Imaging and neurochemical markers for diagnosis and disease progression in ALS.

    abstract：:Based on the development of a transgenic animal model, an increasing number of experimental strategies have revealed the potential to modify the selective degeneration of motor neurons, a feature unique to motor neuron diseases such as amyotrophic lateral sclerosis (ALS). The translation of this success into therapeut...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/s0022-510x(01)00628-1

    authors： Karitzky J,Ludolph AC

    更新日期：2001-10-15 00:00:00

  • Effects of cholinergic drugs on learning impairment in ventral globus pallidus-lesioned rats.

    abstract：:The excitotoxin kainic acid (10 nmol/microliter) was used to produce bilateral lesions in the nucleus basalis magnocellularis (NBM) of rats which provides extensive cholinergic innervation to the cerebral cortex. The behavioral effects of physostigmine, THA (9-amino-1,2,3,4-tetrahydroacridine hydrochloride) and NIK-24...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(89)90041-5

    authors： Ueki A,Miyoshi K

    更新日期：1989-03-01 00:00:00

  • Effect of thyroxine on the development of somatosensory and visual evoked potentials in the rat.

    abstract：:The thyroid hormone thyroxine (T4), administered post-natally to neonatal rats, has been shown to accelerate development of auditory function, as expressed by auditory nerve-brainstem evoked responses. This study investigated whether this earlier development was also reflected in other sensory modalities. Rat pups wer...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(94)00229-h

    authors： Freeman S,Sohmer H

    更新日期：1995-02-01 00:00:00

  • The mirror system, theory of mind and Parkinson's disease.

    abstract：:The mirror system includes a group of neurons in the monkey cortex that discharge both when a movement is executed and when that same movement is observed. An equivalent system in humans has been proposed to mediate action and emotion understanding, being therefore related to theory of mind. Theory of mind (TOM) is th...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2011.07.030

    authors： Alegre M,Guridi J,Artieda J

    更新日期：2011-11-15 00:00:00

  • Magnetization transfer histogram parameters reflect all dimensions of MS pathology, including atrophy.

    abstract：INTRODUCTION:Magnetization transfer ratio (MTR) histogram analysis can be used as a method for quantifying overall disease burden in MS. We studied correlations between MTR histogram and clinical parameters in MS subgroups. Contrary to earlier studies we placed special emphasis on the lower MTR range, to explore the ef...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(01)00431-2

    authors： Kalkers NF,Hintzen RQ,van Waesberghe JH,Lazeron RH,van Schijndel RA,Adèr HJ,Polman CH,Barkhof F

    更新日期：2001-03-01 00:00:00

  • Baroreflex sensitivity and heart rate variability are predictors of mortality in patients with aneurysmal subarachnoid haemorrhage.

    abstract：OBJECT:We aimed to investigate the link between the autonomic nervous system (ANS) impairment, assessed using baroreflex sensitivity (BRS) and heart rate variability (HRV) indices, and mortality after aneurysmal subarachnoid haemorrhage (aSAH). METHODS:A total of 57 patients (56 ± 18 years) diagnosed with aSAH were re...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2018.09.014

    authors： Uryga A,Burzyńska M,Tabakow P,Kasprowicz M,Budohoski KP,Kazimierska A,Smielewski P,Czosnyka M,Goździk W

    更新日期：2018-11-15 00:00:00

  • Inhibition of synaptosomal [3H]glutamate uptake and [3H]glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro.

    abstract：:Synaptosomes and plasma membrane preparations from brain of 30-day-old rats were incubated with glutaric acid at final concentrations ranging from 10 nM to 1 mM for the determination of glutamate uptake and binding, respectively. [3H]Glutamate uptake into synaptosomes was inhibited by approximately 50% by 1 mM glutari...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(99)00307-x

    authors： Porciúncula LO,Dal-Pizzol A Jr,Coitinho AS,Emanuelli T,Souza DO,Wajner M

    更新日期：2000-02-15 00:00:00

  • Neuropathological evaluation and apolipoprotein E gene polymorphism analysis in diffuse Lewy body disease.

    abstract：:We performed a quantitative neuropathological investigation of senile plaques and neurofibrillary tangles in the brains of 14 Japanese patients with diffuse Lewy body disease (DLBD), and examined apolipoprotein E (APOE) gene polymorphism in these patients. Most DLBD brains had as many senile plaques as those with Alzh...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(95)00312-p

    authors： Kawanishi C,Suzuki K,Odawara T,Iseki E,Onishi H,Miyakawa T,Yamada Y,Kosaka K,Kondo N,Yamamoto T

    更新日期：1996-03-01 00:00:00

  • Cryptococcal meningitis in a multiple sclerosis patient taking natalizumab.

    abstract：IMPORTANCE:Natalizumab was approved in 2004 by the US Food and Drug Administration (US-FDA) for treatment of multiple sclerosis (MS), however it was temporarily withdrawn after its use was associated with progressive multifocal leukoencephalopathy (PML). Other reported adverse events have included melanoma, primary cen...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.03.007

    authors： Valenzuela RM,Pula JH,Garwacki D,Cotter J,Kattah JC

    更新日期：2014-05-15 00:00:00

  • Direct observation during surgery shows preservation of cerebral microcirculation in patients with traumatic brain injury.

    abstract：OBJECTIVE:To describe the alterations of the cortical microcirculation of the brain (blood flow and vessel density) in TBI patients who and compare them with a control group. METHODS:Prospective and observational study in a third-level university hospital. Cortical microcirculation in the brain was directly observed u...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.03.044

    authors： Pérez-Bárcena J,Romay E,Llompart-Pou JA,Ibáñez J,Brell M,Llinás P,González E,Merenda A,Ince C,Bullock R

    更新日期：2015-01-01 00:00:00

  • Insulin resistance in amyotrophic lateral sclerosis.

    abstract：:Over the last 30 years glucose intolerance has been reported in a significant percentage of patients with amyotrophic lateral sclerosis (ALS). Currently, a controversy exists in determining whether the carbohydrate abnormality is disease-specific or secondary to decreased glucose utilization due to muscle atrophy. A r...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(84)90154-0

    authors： Reyes ET,Perurena OH,Festoff BW,Jorgensen R,Moore WV

    更新日期：1984-03-01 00:00:00

  • Hypnic headache: A review of 348 cases published from 1988 to 2018.

    abstract：:Hypnic headache (HH) is a rare benign disorder described initially by Raskin in 1988. It is characterized by recurrent nocturnal episodes of headache that periodically awaken the sleeping patient and usually occur in the elderly. This review aimed to describe the clinical features of the HH cases published in the lite...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2019.04.028

    authors： Silva-Néto RP,Santos PEMS,Peres MFP

    更新日期：2019-06-15 00:00:00

  • Stroke severity, early recovery and outcome are each related with clinical classification of stroke: data from the 'Tinzaparin in Acute Ischaemic Stroke Trial' (TAIST).

    abstract：INTRODUCTION:Baseline severity and clinical stroke syndrome (Oxford Community Stroke Project, OCSP) classification are predictors of outcome in stroke. We used data from the 'Tinzaparin in Acute Ischaemic Stroke Trial' (TAIST) to assess the relationship between stroke severity, early recovery, outcome and OCSP syndrome...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.jns.2006.12.016

    authors： Sprigg N,Gray LJ,Bath PM,Lindenstrøm E,Boysen G,De Deyn PP,Friis P,Leys D,Marttila R,Olsson JE,O'Neill D,Ringelstein EB,van der Sande JJ,Turpie AG,TAIST Investigators.

    更新日期：2007-03-15 00:00:00

  • Is poststroke depression a vascular depression?

    abstract：:As we learn more about the relationships between depression and cerebrovascular disease (CVD), a complex picture is emerging in which the chain of causality seems to spiral on itself: progressive or focal brain damage, cognitive impairment, depressive symptoms, dementia, and cardiovascular diseases, all seem to be lia...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2004.09.012

    authors： Dieguez S,Staub F,Bruggimann L,Bogousslavsky J

    更新日期：2004-11-15 00:00:00

  • Length of hospital stay for cerebrovascular disease in the United States: Professional Activity Study, 1963-1991.

    abstract：OBJECTIVE:To assess the temporal and spatial variation in length of hospital stay for cerebrovascular disease in the United States over three decades. DESIGN:Age-, region-, and stroke type-specific length-of-hospital-stay data for nearly 4 million patients admitted with cerebrovascular disease were obtained for the Pr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(94)90075-2

    authors： Lanska DJ

    更新日期：1994-12-20 00:00:00

  • Guillain-Barré syndrome as leading manifestation of graft-versus-host disease in an allogeneic bone marrow transplanted patient.

    abstract：:Guillain-Barré Syndrome (GBS) is the most frequent cause of neuromuscular paralysis in industrialized countries and usually occurs after respiratory and gastrointestinal infections. However, in rare cases GBS is associated with Graft-versus-Host Disease (GvHD). In the present case we report on a female allogeneic bone...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2010.01.020

    authors： Thöne J,Lamprecht S,Hohaus A,Erbguth F,Bickel A

    更新日期：2010-05-15 00:00:00

  • Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease.

    abstract：:Progranulin (GRN) mutations are associated with different clinical phenotypes, including Frontotemporal Lobar Degeneration (FTLD), Corticobasal Degeneration and Alzheimer's disease (AD). In addition, the range of age at onset is very wide and patients presenting initial symptoms around eighty years have been described...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2009.07.011

    authors： Carecchio M,Fenoglio C,De Riz M,Guidi I,Comi C,Cortini F,Venturelli E,Restelli I,Cantoni C,Bresolin N,Monaco F,Scarpini E,Galimberti D

    更新日期：2009-12-15 00:00:00

  • External carotid artery branches involvement in reversible cerebral vasoconstriction syndrome.

    abstract：:Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by segmental vasoconstriction and dilatation of intracranial arteries, usually revealed by headaches, which spontaneously resolve in few weeks. We report a patient with RCVS, revealed by thunderclap headaches, involving both internal and external ca...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.09.033

    authors： Melki E,Denier C,Théaudin-Saliou M,Sachet M,Ducreux D,Saliou G

    更新日期：2012-02-15 00:00:00

  • The C57BL mice: an animal model for inflammatory demyelinating polyneuropathy.

    abstract：:Recently it has been reported that the C57BL mice can be used as a model of benign monoclonal gammopathy (MG). Since experimental models have until now failed to reproduce specific lesions of human dysglobulinemic polyneuropathies, we decided to investigate the peripheral nerve of these mice. The sciatic nerve and the...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(87)90188-2

    authors： Dib M,Vital A,Vital C,Georgescault D,Baquey A,Bezian J

    更新日期：1987-10-01 00:00:00

  • Mechanisms of muscular hypertrophy.

    abstract：:The effects of synergist tenotomy have been studied on rat soleus muscles after denervation and after interference with sciatic axoplasmic flow with colchicine. The results suggest that neural, as well as muscular, factors cause compensatory hypertrophy (CH) of soleus. The myogenic factor may be mild depolarization of...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(80)90166-5

    authors： Hofmann WW

    更新日期：1980-03-01 00:00:00

  • Carrier detection in X-linked Becker muscular dystrophy by muscle provocation test (MPT).

    abstract：:The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatin...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(83)90194-6

    authors： Herrmann FH,Spiegler AW

    更新日期：1983-12-01 00:00:00

  • Rituximab improves not only back stiffness but also "stiff eyes" in stiff person syndrome: Implications for immune-mediated treatment.

    abstract：OBJECTIVE:Stiff person syndrome (SPS) is usually characterized by truncal muscle rigidity and episodic painful spasms, but it sometimes appears with ocular symptoms called "stiff eyes". We recorded saccade movements in an SPS patient manifesting with "stiff eyes" conditions with slow saccade velocity and evaluated the ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2019.116506

    authors： Kodama S,Tokushige SI,Sugiyama Y,Sato K,Otsuka J,Shirota Y,Hamada M,Iwata A,Toda T,Tsuji S,Terao Y

    更新日期：2020-01-15 00:00:00

  • Neuroprotection induced by sevoflurane-delayed post-conditioning is attributable to increased phosphorylation of mitochondrial GSK-3β through the PI3K/Akt survival pathway.

    abstract：BACKGROUND AND PURPOSE:Post-conditioning with volatile anesthetics can create ischemic tolerance against cerebral ischemia-reperfusion injury. The present study was designed to determine whether delayed exposure to sevoflurane could induce ischemic tolerance and if this effect was dependent on increasing phosphorylated...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.12.011

    authors： Ye Z,Xia P,Cheng ZG,Guo Q

    更新日期：2015-01-15 00:00:00

  • Bradykinesia in early and advanced Parkinson's disease.

    abstract：BACKGROUND:Motor impairment in Parkinson's disease (PD) includes slowness (bradykinesia), decreased amplitude (hypokinesia), impaired rhythm and a progressive reduction in speed and amplitude during movement repetition (sequence effect). In the present study we aimed to analyse bradykinesia features in newly-diagnosed ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2016.08.028

    authors： Bologna M,Leodori G,Stirpe P,Paparella G,Colella D,Belvisi D,Fasano A,Fabbrini G,Berardelli A

    更新日期：2016-10-15 00:00:00