Abstract：
:Long-term observations over a period of 22 years in an Indian family with primary dysferlinopathy are recorded, defining phenotypic variability. In the propositus, the dystrophy began distally in the tibialis anterior muscles, before involving the gastrocnemius. Transient painful calf hypertrophy, followed by calf wasting was observed. The proximal lower and upper limbs weakened after three to four years. The younger sibling presented with the proximo-distal phenotype. Both patients showed very high creatine kinase values early into the illness. Disease progression was slow. The younger sibling lost ambulation 14 years after onset, while the elder one remains ambulatory 22 years into the illness. Muscle biopsy showed dystrophic features and absence of dysferlin. Monocyte western blotting confirmed absence of dysferlin. Genetic analysis detected a heterozygous mutation in Exon 54 [c.6124C>T] in the DYSF gene. This is the first family with a diagnosis of dysferlinopathy supported by genetic data, reported from India.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Khadilkar SV,Singh RK,Agarwal P,Krahn M,Levy Ndoi
10.4103/0028-3886.43459subject
Has Abstractpub_date
2008-07-01 00:00:00pages
388-90issue
3eissn
0028-3886issn
1998-4022journal_volume
56pub_type
杂志文章相关文献
NEUROLOGY INDIA文献大全abstract：:Early restoration of flow to perfuse salvageable brain tissue has been shown to significantly reduce the morbidity and mortality of ischemic stroke. Several mechanical devices have shown promising results in patients with large vessel occlusive stroke. Solitaire revascularization device (ev3, Inc., Irvine, California)...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.82750
更新日期：2011-05-01 00:00:00
abstract：BACKGROUND:Corpus Callosum (CC) abnormalities have been described in schizophrenia. Review of CC measurement methods in schizophrenia reveals inconsistency and lack of neuroanatomical basis. AIMS:The aims of the study are to describe a new CC measurement method with valid a neuroanatomical and cytoarchitectural basis ...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2003-06-01 00:00:00
abstract：Objectives:Aspirin is a drug that has been found to be useful in reducing the incidence of infarctions. This systemic is aimed at review evaluating the benefits of aspirin in the management of tuberculous meningitis. Methods:A systematic literature search was performed using PubMed, Cochrane Central Register of Contro...
journal_title：Neurology India
pub_type： 杂志文章,meta分析
doi：10.4103/0028-3886.266232
更新日期：2019-07-01 00:00:00
abstract：OBJECTIVE:Neuroendoscopy has become an integral part of neurosurgery, in particular in the ventricular system. Obstructive hydrocephalus secondary to intraventricular hemorrhage (IVH) is a good indication for neuroendoscopic surgery. We evaluated its efficacy and limitations in these patients. MATERIALS AND METHODS:Du...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.91366
更新日期：2011-11-01 00:00:00
abstract：Background:There is an ongoing research on the etiology of multiple sclerosis (MS). It is still unclear whether nutritional status and biochemical parameters such as serum 25(OH)D, magnesium, and potassium influence the development of disease. Aims:This study aimed to make contributions to the literature in terms of t...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.293462
更新日期：2020-07-01 00:00:00
abstract：:Twenty seven patients with hemifacial spasm (HFS) and sixteen patients with blepharospasm (BS) having mean Jankovic disability rating scale score of 2.56+0.58 SD and 2.81+0.54 SD, respectively, were treated with botulinum toxin A (BTX-A) injections. The total number of injection sessions were ninety one with relief re...
journal_title：Neurology India
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-09-01 00:00:00
abstract：:We report two rare cases of primary intracranial plasma cell granuloma. The tumors probably arose from the dura and involved the cerebral parenchyma. These patients presented with clinical features of raised intracranial pressure and there was focal neurological deficit. The management issues are discussed. ...
journal_title：Neurology India
pub_type： 杂志文章,评审
doi：
更新日期：2004-06-01 00:00:00
abstract：:Facial spasms are of various types. Hemifacial spasm (HFS) is characterized by unilateral tonic-clonic contractions of facial muscles, following a specific pattern of disease progression. It has well-delineated clinical, radiological and electrophysiological features. We have conducted an extensive review of existing ...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.302455
更新日期：2020-11-01 00:00:00
abstract：:Spinal muscular atrophy constitutes one of the major disease entities amongst infantile neuro-muscular disorders. On the basis of morphological evidence, it had been suggested that the infantile spinal muscular atrophy (ISMA) is due to maturation arrest of the myofibres at 20 weeks gestation. Therefore, in the present...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:One thousand human brains of both sexes were examined. Aneurysms were found in 10 specimens (1%). The incidence of aneurysms was 1.6% in females and 0.8% in males. All the aneurysms were saccular. The aneurysms varied in size. In 5 specimens the aneurysms were minute bulbous dilatations. In the rest of the cases it va...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：:A prospective study was done to evaluate the role of short-term Video EEG (VEEG) recording in assessing the nature of clinical behaviour and in classification of seizures in children with frequent intractable seizure episodes. Forty five children upto 12 years of age with frequent intractable seizure episodes (> or =3...
journal_title：Neurology India
pub_type： 临床试验,杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：:Over the last 10 years from 1982-1992, we have diagnosed 29 cases of multiple sclerosis at our centre. In this hospital based retrospective study, 22 cases were definite (including 4 cases of Neuromyelitis optica) and the remaining 7 were probable cases of multiple sclerosis according to Poser's criteria (Poser et al ...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1993-07-01 00:00:00
abstract：:Bilateral optic nerve injury is a rare condition and is reported in 5-6 percent of all optic nerve injuries. However, there is no published series on bilateral optic nerve injury. Analysis of 31 cases of bilateral optic nerve involvement seen amongst 275 patients with optic nerve injury (11.5 percent) is discussed. Ro...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1999-06-01 00:00:00
abstract：BACKGROUND:'Wearing off' refers to the phenomenology of movement disorders in Parkinson's disease (PD) that appears early and is much commoner than generally believed. It may be present in the form of either motor symptoms or non-motor symptoms. AIM:To investigate the utility of wearing-off questionnaire (WOQ-19, Ital...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.217959
更新日期：2017-11-01 00:00:00
abstract：:The relative frequency of carpal tunnel syndrome (CTS) among the patients referred for electrophysiological studies was studied. The case material included both inpatients and outpatients with various peripheral nerve disorders during the study period. CTS constituted 7 percent of all the peripheral nerve disorders an...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Recurrence of coiled aneurysm usually due to coil compaction is a known phenomenon. Extent of recurrence and its relation to re-bleeding is not known. The authors report a case of spontaneous asymptomatic extrusion of guglielmi detachable coils from the dome of a previously ruptured anterior communicating artery aneur...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.32787
更新日期：2007-04-01 00:00:00
abstract：:Lipomatous meningiomas are an uncommon subtype of meningiomas. In the present report, the clinical characteristics, neuroimaing and pathological features of 5 patients (4 males, 1 female; age range, 17-45 years; mean age, 35.2 years) with lipomatous meningioma were analyzed. The neuro-pathological reevaluation of lipo...
journal_title：Neurology India
pub_type： 杂志文章,评审
doi：10.4103/0028-3886.76876
更新日期：2011-01-01 00:00:00
abstract：BACKGROUND:Pain-related studies have mainly been performed through traditional methods, which lack the rigorous analysis of anatomical locations. Functional magnetic resonance imaging (fMRI) is a noninvasive method detecting neural activity, and has the ability to precisely locate related activations in vivo. Moreover,...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.73748
更新日期：2010-11-01 00:00:00
abstract：:With the aging population in our country, symptomatic osteoporotic compression fractures are increasingly common. Osteolytic compression fractures from spinal metastasis are also becoming more frequently seen because of the longer life expectancy from improvements in chemotherapy. Percutaneous vertebroplasty with PMMA...
journal_title：Neurology India
pub_type： 杂志文章,评审
doi：10.4103/0028-3886.22617
更新日期：2005-12-01 00:00:00
abstract：:Aneurysmal bone cyst in temporal region is rare. It is a benign condition and may extend intracranially. Total surgical removal is recommended, whenever possible in one stage or in multiple stages. Prognosis is excellent and total removal will effect a cure. An unusual case of aneurysmal bone cyst of temporal region i...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2002-12-01 00:00:00
abstract：:Primary intraventricular haemorrhage secondary to thrombolytic therapy has not been reported. A 55 years male who received i.v. streptokinase (STK) followed by heparinization for an acute myocardial infraction developed an extensive primary intraventricular haemorrhage from which he made an uneventful recovery over th...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:Stroke is a common but under recognized complication of neurocysticercosis (NCC). We report six patients having NCC who presented with stroke. All patients were young with no vascular risk factors. The arteritis which resulted in ischaemic infarct in these patients was related to the presence and severity of arachnoid...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2000-12-01 00:00:00
abstract：:Rosai Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a benign histiocytic proliferative disorder mainly affecting the lymph nodes. Although several cases of extra-nodal involvement have been reported previously, central nervous system involvement, particularly in the absence ...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.82770
更新日期：2011-05-01 00:00:00
abstract：BACKGROUND:Recanalization therapies have been increasingly applied in clinical practice, which might change the outcomes of patients with large middle cerebral artery (MCA) infarction. The purpose of this study was to study the clinical course, prognostic factors, and long-term outcomes of patients with an acute large ...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.181567
更新日期：2016-05-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The endoscopic transsphenoidal approach is commonly used surgical approach for pituitary adenomas. However, adenomas with dumbbell configuration, pure suprasellar location, and fibrous consistency are difficult to remove by this approach. Recently, the extended endoscopic endonasal approach (E...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.111114
更新日期：2013-03-01 00:00:00
abstract：Background:Neurological manifestations are an important cause of morbidity in antineutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV). It is not clear whether or not they are indicative of a severe disease course with multiple organ involvement and shortened survival. Aims and Objectives:To characterize...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.266234
更新日期：2019-07-01 00:00:00
abstract：:This report describes the clinical features of a 29 year female presenting with a 3 years history of episodes of cerebellar ataxia, dysarthria and nystagmus lasting 3-5 days, recurring almost every month. Sleep disturbance and buzzing in ears were noted 3-4 days before each episode. No other precipitant factor was pre...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：:The present study focuses on the incidence of epileptic seizures in 1000 patients (200 children and 800 adults) with migraine. Very few patients with migraine had history of epileptic seizures. No patient had migraine-induced seizures and none had seizure-induced migraine like headaches. Occurrence of psychogenic non-...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.68680
更新日期：2010-07-01 00:00:00
abstract：Background:Traumatic injury to the spine can be a complex diagnostic and therapeutic entity often with devastating consequences. Outside of the isolated vertebral column injury costs; annual costs associated with spinal cord injury (SCI) are estimated to exceed $9.7 billion. Objective:To identify the 100 most-cited ar...
journal_title：Neurology India
pub_type： 杂志文章,评审
doi：10.4103/0028-3886.293470
更新日期：2020-07-01 00:00:00
abstract：:The Achanta Lakshmipathi Neurosurgical Center (ALNC) and Post Graduate Institute of Neurological Surgery is a private teaching neurosurgical institution located in the VHS (Voluntary Health Services) Hospital Chennai. It has been a leader and trendsetter among the private academic neurosurgical training institutions, ...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.257984
更新日期：2019-03-01 00:00:00
