Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Abstract:

BACKGROUND:While the clinical and immunocytochemical features of sarcoglycanopathies have been reported from India, genetic aspects have not been studied. There is large variation in the sarcoglycan mutations among the studied populations. AIM:To study the spectrum of mutations in sarcoglycan genes (SG). MATERIALS AND METHODS:Patients fulfilling Bushby's criteria for limb girdle muscular dystrophy were prospectively analyzed. Patients gave their medical history and underwent a clinical examination, serum creatine kinase estimation, electrophysiology, muscle biopsy with immunostaining for alpha, beta, gamma, and delta subunits and mutational analysis using denaturing high pressure liquid chromatography and direct sequencing. RESULTS:Mutations in SG accounted for 26.4% of the cohort of limb girdle muscular dystrophy. The mean age of these 18 patients was 22.5 years. Generally, proximal weakness affected the flexor and adductor compartments of the lower and upper limbs. The clinical profile of various mutations was indistinguishable from each other. Gamma SG mutations were most common, seen in 8 patients, followed by delta SG mutation in 5 patients and alpha mutation in 4 patients, while only 1 patient had mutation in the beta sarcoglycan gene. The most prevalent mutation in the gamma SG gene was 525del T. This is of interest as the mutation has been known to exist only in specific populations. CONCLUSION:This study, the first mutational analysis of Indian patients with sarcoglycanopathies suggests gamma SG mutations were the most common and the most prevalent mutation in the gamma SG gene was 525del T.

journal_name

Neurol India

journal_title

Neurology India

authors

Khadilkar SV,Singh RK,Hegde M,Urtizberea A,Love DR,Chong B

doi

10.4103/0028-3886.55603

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

406-10

issue

4

eissn

0028-3886

issn

1998-4022

pii

ni_2009_57_4_406_55603

journal_volume

57

pub_type

杂志文章
  • Curability of cancer by radiotherapy and chemotherapy, including in neuraxial neoplasms.

    abstract::In the October of 1996, Lance Armstrong, celebrated cyclist and one of the greatest athletes the world has ever seen, at the age of 24, was diagnosed with metastatic testicular cancer with disease having already spread to his abdomen, lungs and brain. Lance underwent four cycles of chemotherapy, actually the pretty st...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.48794

    authors: Jalali R,Munshi A,Arora B

    更新日期:2009-01-01 00:00:00

  • Endolymphatic sac tumor: a rare cerebellopontine angle tumor.

    abstract::Endolymphatic sac tumors (ELST) are rare papillary tumors of the temporal bone. Previously named as aggressive papillary middle ear tumors, they have recently been shown to arise from the endolymphatic sac. They are a rare in cerebello-pontine angle (CPA). We present a case of an ELST who presented as a CPA tumor with...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Joseph BV,Chacko G,Raghuram L,Rajshekhar V

    更新日期:2002-12-01 00:00:00

  • Does bony hyperostosis in intracranial meningioma signify tumor invasion? A radio-pathologic study.

    abstract:BACKGROUND:While operating intracranial meningiomas, neurosurgeons commonly drill the hyperostotic bone and put the bone flap back. OBJECTIVE:To determine whether bony changes seen in meningioma are due to tumor invasion or reactionary changes. MATERIALS AND METHODS:This prospective study, conducted over 10 months (O...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.93589

    authors: Goyal N,Kakkar A,Sarkar C,Agrawal D

    更新日期:2012-01-01 00:00:00

  • A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.

    abstract:BACKGROUND:Multiplex ligation-dependant probe amplification (MLPA) is a highly sensitive and rapid alternative to multiplex polymerase chain reaction (PCR). Muscle biopsy should be reserved for mutation-negative cases. MATERIALS AND METHODS:An attempt was made to compare the sensitivity and pattern of mutations by mPC...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.152635

    authors: Manjunath M,Kiran P,Preethish-Kumar V,Nalini A,Singh RJ,Gayathri N

    更新日期:2015-01-01 00:00:00

  • Analysis of dystrophin gene deletions by multiplex PCR in eastern India.

    abstract::The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from diff...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.27164

    authors: Basak J,Dasgupta UB,Banerjee TK,Senapati AK,Das SK,Mukherjee SC

    更新日期:2006-09-01 00:00:00

  • Neuroepidemiology of major neurological disorders in rural Bengal.

    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:

    authors: Das SK,Sanyal K

    更新日期:1996-04-01 00:00:00

  • Functional recovery in ischemic stroke.

    abstract::Functional outcome at three months was studied in 72 patients with ischemic stroke. The Canadian Neurological Scale was used to assess the severity of stroke at admission and functional outcome at 3 months was assessed using modified Rankin scale. The size and site of the infarct was noted from the initial CT. Risk fa...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Paithankar MM,Dabhi RD

    更新日期:2003-09-01 00:00:00

  • 1H-Magnetic resonance spectroscopy correlates with injury severity and can predict coma duration in patients following severe traumatic brain injury.

    abstract:BACKGROUND:Evaluation of the degree of severity of injury, coma duration, and prediction of outcome are integral parts of present-day management of severe traumatic brain injury (TBI). OBJECTIVE:To investigate whether evaluation and prediction of outcome in early phase after severe TBI is possible by means of single-v...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.86540

    authors: Du Y,Li Y,Lan Q

    更新日期:2011-09-01 00:00:00

  • New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

    abstract::In this report, we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members. The index cases was 38-year-old man who presented with progressive difficulty in grip...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.125269

    authors: Nalini A,Gayathri N,Richard P,Cobo AM,Urtizberea JA

    更新日期:2013-11-01 00:00:00

  • Wilson's disease: An Indian perspective.

    abstract::Wilson's disease (WD) is an autosomal recessive disease involving a defect of copper transport by the hepatic lysosomes. It leads to excess copper deposition in the liver, the brain, the kidneys and the skeletal system, affecting most commonly children or young adults and running an invariably fatal course if not adeq...

    journal_title:Neurology India

    pub_type: 历史文章,杂志文章

    doi:10.4103/0028-3886.57789

    authors: Taly AB,Prashanth LK,Sinha S

    更新日期:2009-09-01 00:00:00

  • Cranial nerve involvement in patients with leprous neuropathy.

    abstract:BACKGROUND:Leprosy is one of the most common causes of peripheral neuropathy, perhaps closely matched by diabetic neuropathy. Patterns of peripheral neuropathy in leprosy can be varied, which may include mononeuropathy, mononeuritis multiplex and symmetric polyneuropathy. Cranial nerves, especially facial and trigemina...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.27154

    authors: Kumar S,Alexander M,Gnanamuthu C

    更新日期:2006-09-01 00:00:00

  • Postoperative Tinnitus after Vestibular Schwannoma Surgery: A Neglected Entity.

    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

    authors: Sardhara J,Srivastava AK,Pandey SD,Keshri A,Mehrotra A,Das KK,Bhaishora K,Jaiswal A,Behari S

    更新日期:2020-03-01 00:00:00

  • Quality of life in stroke patients.

    abstract:BACKGROUND AND AIM:To determine the quality of life and its relationship with socio-demographic and medical factors in patients with stroke. SETTING AND DESIGN:Seventy patients with stroke seen in the neurology clinic on a follow-up visit; at least a period of 3 months of follow-up was included. MATERIALS AND METHODS...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.72165

    authors: Dayapoglu N,Tan M

    更新日期:2010-09-01 00:00:00

  • The influence of age in peripheral facial palsy on brainstem reflex excitability.

    abstract:BACKGROUND:Neuronal plasticity is expected to be different at different ages and adaptive changes developing after peripheral facial palsy (PFP) may provide a clue in this respect. AIMS:To investigate the difference in the reorganization developing after facial nerve damage between patients who developed PFP at childh...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.16931

    authors: Kiziltan ME,Uzun N,Kiziltan G,Savrun FK

    更新日期:2005-09-01 00:00:00

  • Is infantile spinal muscular atrophy a disease of maturation arrest or a dynamic neurogenic atrophy of the skeletal muscle?

    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:

    authors: Gayathri N,Das S,Gourie-Devi M,Ramamohan Y,Sarala D

    更新日期:1998-07-01 00:00:00

  • Rational approach to prescription writing: A preview.

    abstract::Prescription writing has to be properly addressed with regard to its correctness and appropriateness. Any errors in the procedure have to be eliminated. Electronic prescribing has abolished most of typographical prescription errors but the rationality involved in prescription of drugs is more of a thought process, whi...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.236960

    authors: Batta A,Singh B

    更新日期:2018-07-01 00:00:00

  • Interlaminar decompression in lumbar canal stenosis.

    abstract::Opinion is still divided over a standard surgical procedure to decompress lumbar canal stenosis. Both, laminectomy with or without facetectomy and foraminotomy and interlaminar fenestration have been advocated. In the present communication interlaminar decompression in lumbar canal stenosis has been discussed. Sixteen...

    journal_title:Neurology India

    pub_type: 临床试验,杂志文章

    doi:

    authors: Patond KR,Kakodia SC

    更新日期:1999-12-01 00:00:00

  • Diagnosing residual or recurrent cerebral aneurysms after clipping by computed tomographic angiography: Meta-analysis.

    abstract:BACKGROUND:A cerebral aneurysm with incomplete treatment may re-grow and cause new bleeding. This meta-analysis calculates the sensitivity and specificity of computed tomographic angiography (CTA) in the detection of the residual or recurrent cerebral aneurysms after clipping, in comparison with digital subtraction ang...

    journal_title:Neurology India

    pub_type: 杂志文章,meta分析

    doi:10.4103/0028-3886.107942

    authors: Sun H,Ma J,Liu Y,Lan Z,You C

    更新日期:2013-01-01 00:00:00

  • Profile of status epilepticus : a prospective study.

    abstract::Forty adult patients (age> 14 years) of generalised convulsive status epilepticus were studied prospectively. All the patients were subjected to detailed history, neurological examination and baseline investigations including haemogram and metabolicprofile. CT scan was carried out in 26 patients. All the patients were...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Swaminathan S,Sawhney I,Jain S,Garg SK

    更新日期:1998-10-01 00:00:00

  • Duchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation.

    abstract::The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Beck...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.43442

    authors: Nadkarni JJ,Dastur RS,Viswanathan V,Gaitonde PS,Khadilkar SV

    更新日期:2008-07-01 00:00:00

  • Conditional downregulation of brain- derived neurotrophic factor and tyrosine kinase receptor B blocks epileptogenesis in the human temporal lobe epilepsy hippocampus.

    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

    authors: Hou X,Wang X,Zhang L

    更新日期:2010-01-01 00:00:00

  • Lipomatous meningioma: a study of five cases with brief review of literature.

    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

    authors: Jaiswal AK,Mehrotra A,Kumar B,Jaiswal S,Vij M,Behari S,Pal L

    更新日期:2011-01-01 00:00:00

  • Economics of head injuries.

    abstract::Head injuries account for significant proportion of neurosurgical admissions and bed occupancy. Patients with head injuries also consume significant proportions of neurosurgical resources. A prospective 6-month study has been carried out to evaluate the expenditure incurred on head injury patients in a modern neurosur...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.24714

    authors: Singh M,Vaishya S,Gupta S,Mehta VS

    更新日期:2006-03-01 00:00:00

  • Parkinsonism with newly diagnosed flare-up rheumatoid arthritis mimicking progressive supranuclear palsy.

    abstract::In order to make a correct diagnosis of idiopathic Parkinson's disease (PD), it is essential to exclude atypical parkinsonian features, such as early dementia, fall, and autonomic dysfunction. Rheumatoid arthritis (RA), which is a systemic inflammatory disorder, although most patients present in a polyarticular manner...

    journal_title:Neurology India

    pub_type:

    doi:10.4103/0028-3886.284382

    authors: Lee KW,Chien CF,Wu MN,Lai CL,Liou LM

    更新日期:2020-03-01 00:00:00

  • Measurement of the permeability, perfusion, and histogram characteristics in relapsing-remitting multiple sclerosis using dynamic contrast-enhanced MRI with extended Tofts linear model.

    abstract:Objective:To investigate the application value of using dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) with extended Tofts linear model for relapsing-remitting multiple sclerosis (RRMS) and its correlation with expanded disability status scale (EDSS) scores and disease duration. Materials and Methods:T...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.232324

    authors: Yin P,Xiong H,Liu Y,Sah SK,Zeng C,Wang J,Li Y,Hong N

    更新日期:2018-05-01 00:00:00

  • The prevalence and clinical features of restless legs syndrome: a door to door population study in Orhangazi, Bursa in Turkey.

    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

    authors: Erer S,Karli N,Zarifoglu M,Ozcakir A,Yildiz D

    更新日期:2009-11-01 00:00:00

  • Susceptibility-weighted imaging: the value in cerebral astrocytomas grading.

    abstract:OBJECTIVE:To investigate the value of susceptibility weighted imaging (SWI) in evaluating the histopathologic grade of cerebral astrocytomas and compare the relative value of SWI and conventional magnetic resonance imaging (MRI) sequences. MATERIALS AND METHODS:This is an analysis of 26 untreated patients with patholo...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.117617

    authors: Zhang H,Tan Y,Wang XC,Qing JB,Wang L,Wu XF,Zhang L,Liu QW

    更新日期:2013-07-01 00:00:00

  • Neurological manifestations of HIV-AIDS at a tertiary care institute in North Eastern India.

    abstract:BACKGROUND:The nervous system is among the most frequent and serious targets of human immunodeficiency virus (HIV) infection. The infection usually occurs in patients with profound immunosuppression. In 10 - 20% of the patients, the presence of a neurological disease is the first manifestation of symptomatic HIV infect...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.198203

    authors: Sharma SR,Hussain M,Habung H

    更新日期:2017-01-01 00:00:00

  • Herpes simplex virus encephalitis complicated by intracerebral hematoma.

    abstract::Herpes simplex virus (HSV) encephalitis complicated by cerebral hematoma is extremely rare. We report a 54-year-old man with hepes simplex encephalitis complicated by intracerebral hematoma and review the literature and describe the characteristics of HSV encephalitis complicated by intracerebral hematoma. ...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.84344

    authors: Takeuchi S,Takasato Y

    更新日期:2011-07-01 00:00:00

  • Cerebral computed tomographic angiography scan delay in subarachnoid hemorrhage.

    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

    authors: Lukosevicius S,Basevicius A,Tamasauskas A

    更新日期:2005-03-01 00:00:00