Abstract：
INTRODUCTION:The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation. CASE REPORT:A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness. He is the brother of a 59-year-old woman with the same clinical features. Muscular biopsy played a decisive role in the diagnosis and was characteristic of mitochondrial myopathy. The genetic analysis revealed the 8344A>G mutation of the MTTK gene of mitochondrial DNA. CONCLUSIONS:The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis. TITLE:Debilidad aislada de cinturas: ampliacion del espectro fenotipico de la mutacion MERRF 8344A>G del ADN mitocondrial. :Introduccion. El diagnostico diferencial de los trastornos que cursan con debilidad de cinturas de inicio en la edad adulta es amplio e incluye enfermedades de neurona motora, union neuromuscular o musculo. La mutacion m.8344A>G del gen MTTK del ADN mitocondrial suele presentarse con afectacion de multiples organos asociada o no a una debilidad de cinturas. No se han descrito hasta el momento casos de debilidad de cinturas aislada como sintoma de presentacion de esta mutacion. Caso clinico. Varon de 57 años, con clinica aislada de debilidad progresiva de cinturas, de cuatro años de evolucion. Hermano de una mujer de 59 años con la misma sintomatologia. La biopsia muscular fue decisiva en el diagnostico y es caracteristica de una miopatia mitocondrial. El analisis genetico objetivo la mutacion m.8344A>G del gen MTTK del ADN mitocondrial. Conclusiones. La mutacion 8344A>G del ADN mitocondrial puede cursar con un cuadro aislado de debilidad de cinturas de inicio en el adulto, por lo que debe de formar parte del diagnostico diferencial de este.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Erdocia-Goni A,Alonso-Jimenez A,Ramon-Carbajo C,Garcia-Arumi E,Casquero P,Gallardo E,Diaz-Manera Jsubject
Has Abstractpub_date
2018-04-16 00:00:00pages
268-270issue
8eissn
0210-0010issn
1576-6578pii
rn2017503journal_volume
66pub_type
杂志文章abstract：:The HMG-CoA reductase inhibitors (known as statins) have been shown to reduce morbi-mortality of vascular origin, including transitory ischemic accidents and cerebral infarcts, in a large group of patients. The implications, both clinical and of costs, oblige us to consider analysis of the existing evidence and the an...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-11-01 00:00:00
abstract：INTRODUCTION:Non-communicating hydrocephalus is defined as a blockade of the physiological cerebrospinal fluid (CSF) flow from the choroid plexus to the subarachnoid space. Usually, a ventricle peritoneal shunt with a valve is employed as treatment but this does not provide a physiological restoration on the CSF flow. ...
journal_title：Revista de neurologia
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-08-01 00:00:00
abstract：INTRODUCTION:Most patients with Parkinson's disease have cognitive and behavior disorders during the course of their illness. OBJECTIVE:In this study we consider practical aspects of the treatment of patients with Parkinson's disease who have such problems. DEVELOPMENT:Better understanding of both normal and abnormal...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-07-16 00:00:00
abstract：INTRODUCTION:The Amyotrophic Lateral Sclerosis (ALS) is a disease characterized by the selective degeneracy of the superior motoneurons of the cortex motor and of the inferior motoneurons at level of the encephalic trunk and spinal marrow. Exist sporadic and familiar forms, being estimated an incidence of 1-2 cases by ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-12-01 00:00:00
abstract：INTRODUCTION:Glutaric aciduria type I is an autosomal recessive inborn error of metabolism that is due to a deficiency of the enzyme glutaryl-CoA dehydrogenase, which gives rise to an accumulation of glutaric and 3-hydroxyglutaric acids in biological fluids. Clinical features present as a sudden-onset severe neurologic...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-05-16 00:00:00
abstract：INTRODUCTION:Advances in neuroimaging in the last decade have allowed a number of new findings about attention deficit hyperactivity disorder (ADHD) to be obtained. Quickly developing technology, together with the progress being made in genetics and neurochemical research, suggests a dysfunction of the fronto striatal ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-03-03 00:00:00
abstract：INTRODUCTION:The endocannabinoid system consists of cannabinoid receptors, endogenous ligands and the enzymatic elements involved in their synthesis and breakdown. AIM:To report on currently held knowledge about the functioning of the system as a modulator of the neuroinflammatory processes associated with chronic dis...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-11-01 00:00:00
abstract：INTRODUCTION:Fibrinolytic agents are effective in the treatment of acute ischemic stroke. However, logistic and clinical factors limit their use. Neuroprotective drugs pose less risks and can be used even before performance of computed tomography of the brain as they are not detrimental in hemorrhagic stroke. These asp...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-05-01 00:00:00
abstract：:The presence of oligoclonal bands (OCB) of immunoglobulin G (IgG) is in our days the most useful finding in the study of the CSF for the diagnosis of multiple sclerosis (MS). The most sensitive method for the detection of OCB is the isoelectric focusing followed by immunoblotting. The prevalence of OCB changes in diff...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-06-16 00:00:00
abstract：INTRODUCTION:Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-08-16 00:00:00
abstract：INTRODUCTION:We analysed the characteristics, progression and outcomes observed following the embolisation of 100 intracranial arteriovenous malformations (AVM) that were performed in order to achieve complete obliteration of the AVM, the elimination of associated vascular risk factors and also to reduce their size wit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：OBJECTIVE:To show the neurological disorders associated with ocular changes mainly affecting retina and which can be seen during the first year of age. DEVELOPMENT:It is used the personal experience and the reported papers of the literature related with the subject to make a short review of the main neurological, bioc...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-01-01 00:00:00
abstract：INTRODUCTION:Genetic etiology in suggested in intracranial aneurysms. Such hypothesis is supported on familial aggregation, ocurrence in identical twins or associated to genetic diseases like adult polycystic renal disease. OBJECTIVE:To identify biological features in familial aneurysms different to sporadic ones. PA...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-02-01 00:00:00
abstract：INTRODUCTION:In this research we study primary headaches, which are currently considered to be a public health problem. We also examine the fact that an ever increasing number of people are affected and that in some cases such headaches can eventually be disabling because they bring about different degrees of functiona...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-05-16 00:00:00
abstract：INTRODUCTION:Although there is agreement that working memory in older adults diminished with age, there is still controversy whether this reduction occurs equally for all kind of information or it is more pronounced for a particular type of information. AIM:To compare verbal working memory with visual and spatial work...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2011-02-01 00:00:00
abstract：:Epilepsy is a neurological disorder that affects 1-2% of the population. Despite the available treatments (drug therapy, resective surgery, vagus nerve stimulation), there is a significant subgroup of patients that continues to have disabling seizures. The indications of deep brain stimulation are exponentially growin...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-07-16 00:00:00
abstract：INTRODUCTION:Vestibular evoked myogenic potential (VEMP) elicited by acoustic stimulation, has been proposed in the assessment of vestibulospinal pathways. AIM:To research the clinical utility of VEMP on multiple sclerosis (MS). SUBJECTS AND METHODS:Forty-four individuals were evaluated (30 normal state and 14 had MS...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-03-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
abstract：INTRODUCTION:The subarachnoid haemorrhage non traumatic assumes between the 6-8% of all acute cerebrovascular, besides is more frequent in young persons. The mortility and mortality is high and the predictive factors of the worse prognostic in unknown. MATERIAL AND METHODS:In the present work, we realized a study of t...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：INTRODUCTION:In recent years, significant advances have been made in the physiology and the pharmacology of vestibular disorders. It is now possible to elaborate an approximation of the mechanisms of action of the drugs used in the symptomatic treatment of vertigo. DEVELOPMENT:These drugs usually have a number of diff...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-08-16 00:00:00
abstract：INTRODUCTION:Developmental disorders are a common pathological condition in Neuropaediatrics and do not usually present characteristic anatomical alterations in the different neuroanatomical imaging tests that can be employed, such as computerised axial tomography or magnetic resonance (MR). Positron emission tomograph...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-02-01 00:00:00
abstract：INTRODUCTION:The combination of subarachnoid hemorrhage (SAH) and subhyaloid hemorrhage is known as 'Terson syndrome'. Retinal hemorrhage is commonly observed clinically in the optic fundi of patients with SAH, however, subhyaloid hemorrhage of the globe in the setting of SAH has been rarely on CT of the brain. Several...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：:The Landau-Kleffner syndrome consists of the association of paroxysmal EEG abnormalities, more marked during sleep, acquired aphasia usually of receptive type, and epileptic seizures in three quarters of cases. Additional features include behavioral disturbances that may even present with autistic features, cognitive ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-08-16 00:00:00
abstract：INTRODUCTION:Trigeminal neuralgia due to vertebrobasilar dolichoectasia is an acquired disease whose true incidence is not known. Microvascular decompression is the most effective technique both for symptomatic relief and for the conservation of nerve structure and function, in spite of the potential complications of a...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-04-16 00:00:00
abstract：INTRODUCTION:Cavernous angiomas account for 5-13% of all vascular malformations. In 75% of cases they are situated in the posterior fossa and up to 30% are associated with abnormal venous drainage. The main complication is haemorrhage; the presence of a neurological focus without radiological evidence of bleeding is ve...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
abstract：INTRODUCTION:Neuroschistosomiasis is an uncommon and under diagnosed disease in our country because of the no clinical suspicion. The most common neurological manifestations are epileptic seizures as central nervous system involvement or different types of myelopathies: transverse myelitis, myeloradiculopathy, cauda eq...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-02-01 00:00:00
abstract：INTRODUCTION:The reproductive functions of epileptic females often display alterations. This dysfunction can be due to psychological, physiological or pharmacological factors. These women have been described as having, for example, a higher incidence of anovulatory cycles, infertility, alterations affecting the hypotha...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-11-16 00:00:00
abstract：INTRODUCTION:In Parkinson's disease there are patients with isolated and multiple cognitive impairment, and their cognitive performance ranges from normal to an advanced degree of dementia. Most patients present an executive deficit, either in isolation or combined with other cognitive disorders, which is considered to...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-02-08 00:00:00
abstract：INTRODUCTION:Skull base metastases (SBM) are an infrequent and late type of cancer progression that are associated to poor prognosis. Its clinical manifestations may be grouped in five clinical syndromes and radiotherapy is its more frequent treatment. Because of the improvement in imaging tests and the close follow up...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-03-01 00:00:00
abstract：INTRODUCTION:Non epileptic paroxysmal events (NEPE) are clinical disorders of usually sudden appearance, brief and originated by a cerebral disfunction of diverse causes with a common character to be no epileptic. DEVELOPMENT:The non epileptic paroxysmal events are more frequent than epileptic events. The 10% of the c...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
