Abstract：
:Myoclonus epilepsy with ragged-red fibers (MERRF) has been shown to be associated with a specific point mutation at the nucleotide 8344 in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). We screened 6 patients with clinically diagnosed MERRF and 1 patient with ocular myopathy for point mutations in the tRNA(Lys) gene, using single strand conformation polymorphism (SSCP) analysis, which can detect even a 1-basepair difference between 2 DNA sequences. Using SSCP and consequent DNA sequencing, we identified the known MERRF mutation in 4 out of 6 MERRF patients, as well as in 1 patient with a new clinical phenotype associated with this mutation: progressive external ophthalmoplegia, muscle weakness and a lipoma, but no myoclonus or epilepsy. Two of the patients with clinical MERRF had neither the MERRF-mutation nor any other mutations in the tRNA(Lys) gene. Using SSCP analysis, we also detected a new polymorphism in 1 patient. Thus, SSCP analysis can be applied to search effectively and rapidly for point mutations or polymorphisms in mitochondrial DNA.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Suomalainen A,Ciafaloni E,Koga Y,Peltonen L,DiMauro S,Schon EAdoi
10.1016/0022-510x(92)90074-usubject
Has Abstractpub_date
1992-09-01 00:00:00pages
222-6issue
2eissn
0022-510Xissn
1878-5883pii
0022-510X(92)90074-Ujournal_volume
111pub_type
杂志文章abstract：:Anti-Yo antibodies are present in the sera and cerebrospinal fluid of some patients with paraneoplastic cerebellar degeneration (PCD), but there is no evidence that the presence of anti-Yo antibodies causes the Purkinje cell loss seen in PCD patients. We examined the level of cytotoxic T lymphocyte (CTL) activity agai...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00163-x
更新日期：1999-09-15 00:00:00
abstract：:We investigated therapeutic effects of 4-methylcatechol (4-MC), a non-amine catechol compound, on streptozotocin (STZ)-induced diabetic neuropathy in rats. 4-MC is one of the potent stimulators of endogenous nerve growth factor (NGF) synthesis both in vitro and in vivo. Diabetic rats showed a statistically significant...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90048-5
更新日期：1994-03-01 00:00:00
abstract：BACKGROUND:Cognitive impairment is frequent in multiple sclerosis (MS). Tissue-specific atrophy measures have been shown to correlate with cognitive performance in several studies. Voxel-based morphometry (VBM) aims to identify regional differences in the local composition of brain tissue and makes possible to correlat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.12.019
更新日期：2009-07-15 00:00:00
abstract：:Postnatal development of the human visual cortex is characterized by an overshooting growth pattern of its volume with a maximum at 8 postnatal months and by loss of a substantial proportion of its neurons. The highest rate of reduction in neuronal numbers is observed in layers II-IVa, with other layers showing a more...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90156-2
更新日期：1991-06-01 00:00:00
abstract：BACKGROUND:The aims of this paper are: 1) to present the data of systemic thrombolysis for ischemic stroke in five Croatian centers from July 2008 till January 2010; 2) to compare the results between centers and; 3) to compare data with previously published results from 2006 to 2008 period from our center, and with the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.10.008
更新日期：2012-03-15 00:00:00
abstract：:Ligation of either the common and internal iliac or the internal and external iliac arteries produced ischaemic lesions of the sciatic nerve and its branches, as well as direct muscle damage, in 5 out of 6 rabbits. In one animal, ligation of the aorta and of the internal iliac artery on one side produced a similar mix...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90220-x
更新日期：1979-12-01 00:00:00
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
更新日期：2007-03-15 00:00:00
abstract：:A lack of normative data for transcranial magnetic stimulation (TMS)-related measures of the lower limb muscles in patients with stroke prevents us from understanding whether changes in TMS-related measures are induced by treatment or are due to their variability and/or the natural evolution of the disease. The purpos...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.01.004
更新日期：2011-04-15 00:00:00
abstract：:The occurrence of clusters of Marchi-positive granules and of Marchi-positive myelinoid bodies at different postnatal developmental stages was examined lightmicroscopically in Vibratome sections from the cervical lateral funiculus of the cat, after perfusion-fixation with glutaraldehyde. The findings show that cluster...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90093-4
更新日期：1977-10-01 00:00:00
abstract：:Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephed...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.08.012
更新日期：2004-01-15 00:00:00
abstract：OBJECTIVE:It has been suggested that autoantibodies may induce axonal damage in multiple sclerosis (MS). Optical coherence tomography (OCT) showed that thinning of peripapillary retinal nerve fiber layer (RNFL) and ganglion cell layer/inner plexiform (GCIPL) measurements reflect axonal loss in the disease. We investiga...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.030
更新日期：2016-01-15 00:00:00
abstract：:Protein stabilization and oligonucleotide therapies are being tested in transthyretin amyloid polyneuropathy (TTR FAP) trials. From retrospective analysis of 97 untreated TTR FAP patients, we test the adequacy of Neuropathy Impairment Score+7 tests (NIS+7) and modifications to comprehensively score impairments for use...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.06.041
更新日期：2014-09-15 00:00:00
abstract：INTRODUCTION:Palinacousis is a paroxysmal auditory illusion in which perseveration of an external auditory stimulus occurs after cessation of the stimulus. The subjects recognize the illusory nature of this experience, which is often a fragment of the last sentence they heard. Palinacousis has been reported in only a f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.02.016
更新日期：2012-06-15 00:00:00
abstract：:Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene. It is a heterogeneous, multisystem disease with rapidly progressing polyneuropathy (including sensory, motor, and autonomic impairments) and cardiac dysfunction. M...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2019.116424
更新日期：2019-10-15 00:00:00
abstract：BACKGROUND:Single cases with hemispheric, cortical or subcortical, ischemic lesions presenting with rotational vertigo (RV), that challenge the notion of infratentorial or peripheral generation of RV have been published, but the incidence of this symptom in a larger series is unknown. The aim of this study was to inves...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.11.015
更新日期：2010-03-15 00:00:00
abstract：:HS1-associated protein X-1 (HAX-1) and presenilin-associated rhomboid-like protein (PALR) were reported to play an important role in the activation of HtrA2/Omi, which is also designated PARK13, in the mitochondria. To elucidate the role of HAX-1 and PARL in patients with Parkinson's disease (PD) and dementia with Lew...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116928
更新日期：2020-08-15 00:00:00
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 b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.11.023
更新日期：2009-03-15 00:00:00
abstract：BACKGROUND:Differential diagnosis between idiopathic Parkinson's disease (PD) and multiple system atrophy (MSA) is often difficult in early disease stages. Since MSA is misdiagnosed as PD in more than 20% of the early stages, there is need for methods refining the differentiation of the two disease entities. In PD post...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00279-3
更新日期：2000-04-01 00:00:00
abstract：:Prefrontal corticofugal systems, as studied with anterograde HRP histochemistry, revealed projections to preoculomotor and oculomotor centers in the diencephalon and brainstem which may underlie direct cortical influence on eye movement. Because of the location of these preoculomotor trajectories, stimulation and lesi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90029-0
更新日期：1981-03-01 00:00:00
abstract：:The primary objective of this study was to attempt to induce excessive intraglial acidosis during ischemia by subjecting rats to an initial insult which leads to post insult accumulation of glycogen, presumed to accumulate primarily in astrocytes. The initial insults were 15 min of transient forebrain ischemia, 30 min...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)82226-x
更新日期：1996-04-01 00:00:00
abstract：OBJECTIVE:Delirium is an independent risk factor for cognitive impairment and development of dementia in medical patients. It has never been thoroughly studied whether this association is also present in the stroke population. Our aim was to evaluate the effects of delirium in the acute phase after stroke on cognitive ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.024
更新日期：2011-07-15 00:00:00
abstract：:Six clones obtained from the neoplastic, astrocytic murine cell line VMDk P497 were injected intracerebrally into syngeneic hosts and the tumorigenicity of each clone was established. Five of the 6 clones produced tumours with incidences ranging from 25% to 100% and mean latencies of 43-100 days, according to the clon...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90071-8
更新日期：1988-02-01 00:00:00
abstract：:Even though the mesocortical dopamine system is known to play an important role in affect control and reward related behaviour, only little is known about the impact of Parkinson's disease on emotional communication. The ability to perceive and express emotions via speech plays an essential role in every day social li...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2009.08.038
更新日期：2010-02-15 00:00:00
abstract：:The prevalence, morphology and pathogenesis of vascular dementia (VaD), recently termed vascular cognitive impairment (VCI), and of mixed dementia (Alzheimer disease+vascular encephalopathy) are a matter of discussion and no validated neuropathologic criteria for these disorders are currently available. In Western mem...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.11.029
更新日期：2005-03-15 00:00:00
abstract：:The p53-related p73 protein is an important mediator of apoptosis, development and tumorigenesis. Previously, we showed that over-expression of the p73beta isoform induced apoptosis in proliferating neuronal cells; however, the study did not address the effect of p73 in post-mitotic neurons. To address this question, ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.08.012
更新日期：2006-01-15 00:00:00
abstract：:Churg-Strauss syndrome (CSS) is a rare systemic vasculitis, almost invariably accompanied by asthma, nasal polyposis, paranasal sinus abnormalities, and increased peripheral blood eosinophil count. Neurological involvement as peripheral neuropathy is a common feature, whereas cerebral involvement is extremely rare. He...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2010.10.016
更新日期：2011-02-15 00:00:00
abstract：:We evaluated the incidence, distribution, and histopathologic correlates of microvascular brain lesions in patients with severe COVID-19. Sixteen consecutive patients admitted to the intensive care unit with severe COVID-19 undergoing brain MRI for evaluation of coma or neurologic deficits were retrospectively identif...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2021.117308
更新日期：2021-01-15 00:00:00
abstract：:Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.008
更新日期：2007-03-15 00:00:00
abstract：:The Purkinje cell densities in the cerebellar vermis were determined in 31 male alcoholics and 34 non-alcoholic controls under 70 years of age. In addition, all cases were examined histologically for atrophy of the superior vermis. All analyses were performed independently of each other and on randomized slides. The a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90049-3
更新日期：1986-08-01 00:00:00
abstract：:Putative etiology was studied in 991 patients with symptomatic localization-related epilepsies seen in a university hospital in South India. They formed 39% of patients with various types of epilepsies and epileptic syndromes seen during the study period. Seizure occurred in close temporal association with an acute ce...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00093-8
更新日期：1998-06-11 00:00:00
