Abstract：
OBJECTIVE:In this prospective study conducted over 2 years, 300 nonconsecutive cases of autosomal recessive limb girdle muscular dystrophies (AR-LGMD) were characterized, based on phenotypic features, biochemical findings, electrophysiological studies, muscle immunohistochemistry (IHC), and western blot (WB) analysis. METHODS:Muscle biopsy was performed in 280 index cases. 226 biopsies were subjected for IHC, and, 176 of these for WB analysis. RESULTS:A total of 246 patients were finally analyzed. This figure included 20 affected siblings. LGMD2B was the most common form and comprised of 33.3% (n = 82) of the entire cohort. This was followed by alpha-dystroglycanopathies with 61 (24.79%) patients (LGMD2I in 15, 2K in 10 and combined deficiency of both in the remaining). LGMD 2C-F was present in 35 (14.23%) cases and LGMD2A in 22 (10.2%) cases, and were identified by routine WB, densitometry method and autocatalytic assay. LGMD2G was present in 8 patients (3.25%), and LGMD2H and 2J in 2 cases each, respectively. CONCLUSIONS:For the first time, we have identified patients with LGMD2G, 2H, 2I, and 2K by the WB technique. These may be the common forms of autosomal recessive (AR)-LGMD's among Indian patients and need identification for prognostication and appropriate counseling. Although not a nationwide study, our data is sufficient to provide information about the relative proportions of various LGMD2 subtypes in India. Diagnosing LGMD2 based on classical clinical features, IHC and WB is fairly sensitive and specific; however, further genetic studies are required to confirm the diagnosis.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Nalini A,Polavarapu K,Sunitha B,Kulkarni S,Gayathri N,Srinivas Bharath MM,Modi S,Preethish-Kumar Vdoi
10.4103/0028-3886.162048subject
Has Abstractpub_date
2015-07-01 00:00:00pages
548-60issue
4eissn
0028-3886issn
1998-4022pii
ni_2015_63_4_548_162048journal_volume
63pub_type
杂志文章相关文献
NEUROLOGY INDIA文献大全abstract：BACKGROUND:The operative approaches for colloid cyst excision are varied with open microsurgical excision still being considered as the "gold standard". Endoscopic removal of these cysts is gaining in popularity. AIMS:To document the efficacy and safety of the endoscope for colloid cyst excision. MATERIALS AND METHOD...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.66222
更新日期：2010-05-01 00:00:00
abstract：BACKGROUND:Tuberculosis is endemic in developing countries. However, calvarial tuberculosis is rare, even in areas where tuberculosis is endemic. In the literature, only few case series of calvarial tuberculosis have been reported. AIM:To report a case series of 11 patients with calvarial tuberculosis, and discuss the...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.57814
更新日期：2009-09-01 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：:Enterogenous cyst is extremely rare in the supratentorial compartment. Two adult patients with histologically variefied supratentorial entrogenous cyst are described. Light microscopy and immunohistochemistry examination revealed the endodermal origin of the cyst. Enterogenous cyst should be considered in the differen...
journal_title：Neurology India
pub_type： 杂志文章,评审
doi：10.4103/0028-3886.72200
更新日期：2010-09-01 00:00:00
abstract：BACKGROUND:The conventional laminectomy may precipitate numerous long-term complications such as the development of kypho-scoliosis, spinal instability, epidural fibrosis and loss of bony shield over the spinal cord, thus increasing the risk of a subsequent myelopathy. The present study evaluates the efficacy of a unil...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.156289
更新日期：2015-03-01 00:00:00
abstract：Background:Due to the paucity of quick, cognitive screening tools available in India that are independent of cultural and educational influences, a 6-item paper and pencil test, covering areas of memory, executive functioning, attention, and visuospatial ability domains - the Neuropsychological Evaluation Screening Too...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.227304
更新日期：2018-03-01 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：:Pericallosal lipomas (PCLs) are rare tumors of the central nervous system. They may be associated with some parenchymal and vascular anomalies of brain. Magnetic resonance imaging is the modality of choice to assess the extent of the PCLs and possible concomitant malformations such as callosal agenesis/disgenesis. Com...
journal_title：Neurology India
pub_type：
doi：10.4103/0028-3886.271237
更新日期：2019-09-01 00:00:00
abstract：:The ninth case of axial intradural melanotic nerve tumour presenting with cervical cord compression is reported. The literature is reviewed and proposed theories on the origin of these tumours are discussed. ...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
abstract：:An adult male presenting with acute onset opsoclonus, myoclonus and cerebellar ataxia is being reported. Patient had myoclonus involving limbs and palate. There are only a few reported cases associated with palatal myoclonus. Patient showed gradual spontaneous recovery. Possibility of underlying malignancy was exclude...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1999-06-01 00:00:00
abstract：:The exact diagnosis of demyelinating diseases is an enigma even in the best neurological centres. In the present study, the potential role of differential CSF proteins has been critically evaluated in differentiating multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM). Cellulose acetate electrophor...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：BACKGROUND:Craniovertebral junction (CVJ) abnormalities, such as atlantoaxial dislocation (AAD) with or without basilar invagination (BI), with or without associated Chiari malformation (CM), may cause a high cervical myelopathy. Occasionally, mechanical factors such as inadequate canal decompression, torticollis, and/...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.193781
更新日期：2016-11-01 00:00:00
abstract：Background:This prospective study analyzes the factors responsible for pre and postoperative persistent tinnitus following vestibular schwannoma (VS) surgery and discusses the possible etiopathogenetic mechanisms. Materials and Methods:Sixty-seven consecutive patients with unilateral VS operated via the retrosigmoid-s...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.280639
更新日期：2020-03-01 00:00:00
abstract：BACKGROUND:Symptomatic neurosyphilis (NS) can have varied syndromic presentations: Meningitis, meningovascular and parenchymatous involvement. AIMS:To evaluate the different types of clinical syndrome of NS in a tertiary care hospital. MATERIAL AND METHODS:This was a study of clinical profile of 16 patients with NS, ...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.82719
更新日期：2011-05-01 00:00:00
abstract：:Women in India are greatly discriminated against if they happen to have epilepsy. Engagements are often cancelled. The parents of epileptic girls have to give heavy dowry at the time of marriage, even if the boy is handicapped. As a result, many girls do not disclose their problem before marriage. They take the medici...
journal_title：Neurology India
pub_type：
doi：
更新日期：2000-06-01 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
abstract：:The Madras Medical College and its affiliated Government General Hospital, Chennai, are among the oldest medical institutions in India. The Madras Institute of Neurology (MIN) was the second neurosciences department to be started in India. The MIN has trained several batches of illustrious neurologists and neurosurgeo...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.170058
更新日期：2015-11-01 00:00:00
abstract：OBJECT:To evaluate the outcome of patients undergoing a decompressive craniectomy (DC) in traumatic brain injury (TBI) and the factors predicting outcome. MATERIALS AND METHODS:A total of 1,236 patients with TBI operated with a DC from January 2008 to December 2013 at a tertiary care hospital were included in the stud...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.156277
更新日期：2015-03-01 00:00:00
abstract：:Three patients of delayed extradural hematoma (EDH) were seen in the last one year among forty eight consecutively treated cases of EDH. All the three hematomas were evacuated. Awareness of this entity and a high degree of vigilance are strongly recommended to detect such cases. Repeat CT should always be done, especi...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2002-09-01 00:00:00
abstract：:Headaches are commonly associated with various psychiatric disorders. The comorbidity of migraine and psychiatric disorders has been well documented. Here we present a case of schizophrenia with comorbid headache treated with clozapine. The patient's headache fulfilled the diagnostic criteria for cluster headache (CH)...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2006-06-01 00:00:00
abstract：:A prospective study was undertaken in 459 cases, undergoing open heart surgery which necessitated media sternotomy, to see the frequency of brachial plexus and peripheral nerve related complications in the upper limbs. Seven cases (1.53) had such complications. These included lower trunk injury (3 cases), ulnar neurop...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：CONTEXT:Computed tomographic angiography (CTA) is widely applied in the evaluation of cerebral vessels. Contrast enhancement in cerebral CTA without care or test bolus is not always sufficient for high-quality images. AIMS:Evaluation of the possibilities of calculation of scan delay for cerebral CTA in case of subarac...
journal_title：Neurology India
pub_type： 临床试验,杂志文章
doi：10.4103/0028-3886.15063
更新日期：2005-03-01 00:00:00
abstract：:A Neuroepidemiological survey was carried at Malda district, 350 Km away from Calcutta; exactly at midpoint between Siliguri and Calcutta on a rural population of 37,286 (M 18,057; F 19,229; 1981 Census) under three Gram Panchayat areas with the help of non-professionals like Gram Panchayat members, ICDS workers, mult...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
abstract：:Until now, only one gestational tumefactive demyelinating lesion (TDL) has been described. Here we report two TDL cases occurring during and after the pregnancy. A 26-year-old 6-week pregnant woman developed a 3-cm left frontotemporoparietal subcortical TDL with inhomogeneous partial enhancement. Brain biopsy revealed...
journal_title：Neurology India
pub_type：
doi：10.4103/0028-3886.273654
更新日期：2019-11-01 00:00:00
abstract：BACKGROUND:Comparative study of Class I drugs in central poststroke pain (CPSP) is lacking. OBJECTIVE:To evaluate the safety and efficacy of pregabalin and lamotrigine in patients with CPSP. SETTING:Tertiary care teaching referral hospital. METHODS:We included consecutive patients with CPSP having ≥50 mm score on Vi...
journal_title：Neurology India
pub_type： 杂志文章,随机对照试验
doi：10.4103/neuroindia.NI_45_16
更新日期：2017-05-01 00:00:00
abstract：:Chronic lymphocytic leukemia (CLL) is a frequent hematological malignancy, with meningeal or peripheral nerve infiltrations being the most commonly encountered neurological complications. In this report, we describe a CLL patient with Miller-Fisher syndrome (MFS) who responded to immune modulation with plasmapheresis....
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.42003
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Restless leg syndrome (RLS) has negative effects on the quality of life of the patients. Epidemiological studies on RLS are limited. AIM:To determine the prevalence of RLS among people aged 40 years and above in Orhangazi district of Bursa, Turkey. MATERIALS AND METHODS:The study was carried out between 20...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.59467
更新日期：2009-11-01 00:00:00
abstract：:Moyamoya disease, Japanese for 'puff of smoke', is a rare disease that presents most commonly with recurrent TIAs (transient ischemic attacks) / stroke in childhood. Ischemic symptoms in patients with moyamoya disease are usually due to hemodynamically-mediated perfusion failure. Identification of abnormal tissue perf...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：:Various kinds of physical and cognitive acts and different sensory inputs to the brain have been described to induce reflex epilepsy. Usually simple sensory stimuli or motor acts precipitate epilepsy. Rarely, however more specific sensory stimuli orcomplex motor or cognitive acts have been known to do so. We report a ...
journal_title：Neurology India
pub_type： 杂志文章
doi：
更新日期：1993-10-01 00:00:00
abstract：BACKGROUND:Brain-derived neurotrophic factor (BDNF) has been implicated as a potential therapeutic target in temporal lobe epilepsy (TLE). However, whether BDNF exerts an epileptogenic or antiepileptogenic function remains controversial. MATERIALS AND METHODS:BDNF/tyrosine kinase receptor B (trkB) expression levels we...
journal_title：Neurology India
pub_type： 杂志文章
doi：10.4103/0028-3886.60392
更新日期：2010-01-01 00:00:00
