Neurological mitochondrial cytopathies.

Abstract:

:The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 2000 are being reported. There were 8 male and 6 female patients. The mean age was 24.42+/-11.18 years (range 4-40 years). Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. In the defined syndrome categories, three patients had MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes), three had MERRF (myoclonic epilepsy and ragged red fibre myopathy), three cases had KSS (Kearns-Sayre Syndrome) and three were diagnosed to be suffering from mitochondrial myopathy. In the uncategorized group, one case presented with paroxysmal kinesogenic dystonia and the other manifested with generalized chorea alone. Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 mg%, post exercise 41.02+/-4.93 mg%). Muscle biopsy was done in all cases. Succinic dehydrogenase staining of muscle tissue showed subsarcolemmal accumulation of mitochondria in 12 cases. Mitochondrial DNA study could be performed in one case only and it did not reveal any mutation at nucleotides 3243 and 8344. MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral cerebellar atrophy in MERRF.

journal_name

Neurol India

journal_title

Neurology India

authors

Mehndiratta MM,Agarwal P,Tatke M,Krishnamurthy M

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

162-7

issue

2

eissn

0028-3886

issn

1998-4022

journal_volume

50

pub_type

杂志文章
  • Carpal tunnel syndrome after 22 years of Colle's fracture.

    abstract::Delayed carpal tunnel syndrome is rare. We describe the electrophysiological findings in a patient with Colle's fracture, who developed carpal tunnel syndrome 22 years after a wrist injury. ...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Goyal V,Bhatia M,Behari M

    更新日期:2003-03-01 00:00:00

  • Profile of intractable epilepsy in a tertiary referral center.

    abstract::This study was undertaken to find out the profile of intractable epilepsy (IE) in a tertiary referral centre. 100 patients (males 67; females 33) with IE attending the epilepsy clinic were evaluated. Detailed history, examination, investigations like EEG and CT scan and details regarding pharmacotherapy were analysed....

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Singhvi JP,Sawhney IM,Lal V,Pathak A,Prabhakar S

    更新日期:2000-12-01 00:00:00

  • Carpal tunnel syndrome : how common is the problem in South India.

    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:

    authors: Murthy J,Meena AK

    更新日期:1995-01-01 00:00:00

  • Neurological manifestations in brucellosis.

    abstract::Neurological manifestations of brucellosis are rare. Twelve cases of brucellosis with neurological involvement are being presented. The underlying mechanism has been discussed. ...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Srivastava VK,Ansari MG

    更新日期:1993-01-01 00:00:00

  • Quantification of the Asymmetry between Right and Left Cerebral Lateral Ventricles by Indexing Methods.

    abstract:Purpose:To retrospectively analyze hydrocephalus and lateral ventricular asymmetry by measuring the midline shift, Evans index, right and left semi-Evans index, Right and left semi-callosal angles, superior ophthalmic vein (SOV) diameters, and to compare these findings with the control group. Methods:The study include...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.304115

    authors: Arslan G,Ozdemir NBU

    更新日期:2020-11-01 00:00:00

  • Multi-minicore disease: a rare form of myopathy.

    abstract:BACKGROUND:Multi-minicore disease is a rare form of myopathy characterized by slowly progressive or nonprogressive muscle weakness and characteristic multiple cores within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India. MA...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.30427

    authors: Sharma MC,Gulati S,Sarkar C,Jain D,Kalra V,Suri V

    更新日期:2007-01-01 00:00:00

  • Application of the Willis covered stent for the management of posttraumatic carotid-cavernous fistulas: an initial clinical study.

    abstract:AIMS:To evaluate the feasibility of using the Willis covered stent in the management of patients with traumatic carotid-cavernous fistulas (CCFs). MATERIALS AND METHODS:Twelve consecutive patients with 14 post-traumatic CCFs referred for treatment with Willis covered stents were enrolled in this prospective study. Dat...

    journal_title:Neurology India

    pub_type: 临床试验,杂志文章

    doi:10.4103/0028-3886.96397

    authors: Wang YL,Ma J,Li YD,Ding PX,Han XW,Wu G

    更新日期:2012-03-01 00:00:00

  • Delayed extradural hematoma: a case report.

    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:

    authors: Alappat JP,Baiju,Praveen,Jayakumar K,Sanalkumar P

    更新日期:2002-09-01 00:00:00

  • A functional magnetic resonance imaging study of human brain in pain-related areas induced by electrical stimulation with different intensities.

    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

    authors: Yuan W,Ming Z,Rana N,Hai L,Chen-wang J,Shao-hui M

    更新日期:2010-11-01 00:00:00

  • Genetic therapy in gliomas: historical analysis and future perspectives.

    abstract::High-grade gliomas are relatively frequent in adults, and consist of the most malignant kind of primary brain tumor. Being resistant to standard treatment modalities such as surgery, radiation, and chemotherapy, it is fatal within 1 to 2 years of onset of symptoms. Although several gene therapy systems proved to be ef...

    journal_title:Neurology India

    pub_type: 历史文章,杂志文章

    doi:10.4103/0028-3886.15046

    authors: Mattei TA,Ramina R,Miura FK,Aguiar PH,Valiengo Lda C

    更新日期:2005-03-01 00:00:00

  • Fatal granulomatous amoebic encephalitis caused by Acanthamoeba in a newly diagnosed patient with systemic lupus erythematosus.

    abstract::Granulomatous amoebic encephalitis (GAE) caused by certain species belonging to the genus Acanthamoeba, Balamuthia, or Naegleria presents as a subacute or chronic illness. Amoebic encephalitis caused by Acanthamoeba is seen more often in immunosuppressed individuals. Thus, it may often be associated with human immunod...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.173662

    authors: Thamtam VK,Uppin MS,Pyal A,Kaul S,Rani JY,Sundaram C

    更新日期:2016-01-01 00:00:00

  • Recent advances in Epilepsy Research in India.

    abstract::There are more than 10 million persons with epilepsy (PWE) in India. Despite availability of antiepileptic drugs (AEDs), there is a large treatment gap varying from 50 to 70% among PWE. For treatable epilepsy, this gap can be attributed to poor education, poverty, cultural beliefs, stigma, and poor healthcare infrastr...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/neuroindia.NI_1070_16

    authors: Dixit AB,Banerjee J,Chandra PS,Tripathi M

    更新日期:2017-01-01 00:00:00

  • Transverse myelitis spectrum disorders.

    abstract::Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder that affects the spinal cord focally resulting in motor sensory and autonomic dysfunction. Establishing the diagnosis of ATM is not as difficult as determining the possible etiology. There is a difference in the perception of ATM seen in the Wes...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.51278

    authors: Pandit L

    更新日期:2009-03-01 00:00:00

  • Positron emission tomography in neurological diseases.

    abstract::Positron emission tomography (PET) is the study of human physiology by electronic detection of positron-emitting radiopharmaceuticals. It is one of the noninvasive technologies that can measure the metabolic and functional activity of living tissue. Positron emission tomography finds its clinical applications in broad...

    journal_title:Neurology India

    pub_type: 杂志文章,评审

    doi:10.4103/0028-3886.16395

    authors: Kumar S,Rajshekher G,Prabhakar S

    更新日期:2005-06-01 00:00:00

  • Decompressive craniectomy in traumatic brain injury: A single-center, multivariate analysis of 1,236 patients at a tertiary care hospital in India.

    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

    authors: Sinha S,Raheja A,Garg M,Moorthy S,Agrawal D,Gupta DK,Satyarthee GD,Singh PK,Borkar SA,Gurjar H,Tandon V,Pandey RM,Sharma BS

    更新日期:2015-03-01 00:00:00

  • Non Wegener's midline granuloma with bilateral thalamic involvement.

    abstract::A rare case of non Wegener's midline granuloma with bilateral thalamic involvement is presented. A 53 year old male presented with a nonhealing midline granuloma of nose for one year and right hemiparesis for five months with bilateral pyramidal signs. Biopsy from the nasal lesion picture of malignant midline reticulo...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Maiti B,Mukherjee S,Das S,Chowdhury M

    更新日期:1995-04-01 00:00:00

  • Percutaneous vertebroplasty: current concepts and local experience.

    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

    authors: Hee HT

    更新日期:2005-12-01 00:00:00

  • Medullomyoblastoma: A case report.

    abstract::Medullomyoblastoma is a rare tumour seen in childhood. We report a medullomyoblastoma occurring in the cerebellar vermis of a 4 year old boy. The light microscopic features, immunohistochemistry and histogenesis are described. ...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: ArunKumar MJ,Chacko G,Chandi SM,Chandy MJ

    更新日期:1999-03-01 00:00:00

  • Minimally invasive transforaminal lumbar interbody fusion using bone cement-augmented pedicle screws for lumbar spondylolisthesis in patients with osteoporosis. Case series and review of literature.

    abstract:BACKGROUND:Instrumentation in patients with osteoporosis is challenging. Bone cement-augmented fenestrated pedicle screw fixation is a new procedure for fixation in the osteoporotic bone; and, applying minimally invasive techniques to the above is a challenging and novel concept. AIMS:To evaluate the clinical and radi...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.222826

    authors: Chandra Vemula VR,Prasad BC,Jagadeesh MA,Vuttarkar J,Akula SK

    更新日期:2018-01-01 00:00:00

  • Lateral sacral lipomyelomeningocele : a rare anomaly.

    abstract::Lateral sacral lipomyelomeningocele is a rare spinal developmental anomaly. In the case under report, the fat attached to the neural placode was blending with the gluteal fat externally. The cord was tethered at this level. Multiple bony anomalies and diastematomyelia were associated findings. A case of lateral sacral...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Shetty DS,Lakhkar BN

    更新日期:2002-06-01 00:00:00

  • Cerebral miliary micro aneurysms in polyarteritis nodosa: report of two cases.

    abstract::Cerebral involvement is rare in polyarteritis nodosa (PAN) and is mostly characterized by ischemic events and intracranial hemorrhages secondary to cerebral aneurysms is extremely rare. We report two patients of PAN with multiple intracranial aneurysms. One patient presented with intracerebral hemorrhage and in the ot...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.65840

    authors: Sharma S,Kumar S,Mishra NK,Gaikwad SB

    更新日期:2010-05-01 00:00:00

  • Comparative analysis of diagnostic accuracy of different brain biopsy procedures.

    abstract:BACKGROUND:Image-guided procedures such as computed tomography (CT) guided, neuronavigator-guided and ultrasound-guided methods can assist neurosurgeons in localizing the intraparenchymal lesion of the brain. However, despite improvements in the imaging techniques, an accurate diagnosis of intrinsic lesion requires tis...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.28113

    authors: Jain D,Sharma MC,Sarkar C,Gupta D,Singh M,Mahapatra AK

    更新日期:2006-12-01 00:00:00

  • The Madras Institute of Neurology, Madras Medical College, Chennai.

    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

    authors: Ramesh VG,Bhanu K,Jothi R

    更新日期:2015-11-01 00:00:00

  • Poor-grade subarachnoid hemorrhage: is surgical clipping worthwhile?

    abstract:BACKGROUND:Management of patients with poor-grade aneurysmal subarachnoid hemorrhage (SAH) is difficult and the protocols followed differ from center to center. MATERIAL AND METHODS:In this report, we present our experience with aneurysmal clipping in patients with poor-grade SAH. Patients with poor Hunt and Hess (H a...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.79144

    authors: Gupta SK,Ghanta RK,Chhabra R,Mohindra S,Mathuriya SN,Mukherjee KK,Umredkar AU,Singla N

    更新日期:2011-03-01 00:00:00

  • Clinical spectrum and mortality of extradural haematoma in rural versus urban India.

    abstract::This study comprised of 340 cases of extradural haematomas (EDHs) treated during a period of 10 years (1984-1994) in the division of Neurosurgery, Institute of Medical Sciences, Varanasi. Majority of them were rural patients (55.9 percent). The commonest mode of injury was blunt impact to the head mainly by lathi in r...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:

    authors: Sharma V,Mohanty S,George PJ

    更新日期:1995-07-01 00:00:00

  • Spontaneous extrusion of guglielmi detachable coils from anterior communicating artery aneurysm.

    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

    authors: Choudhari KA,Flynn PA,McKinstry SC

    更新日期:2007-04-01 00:00:00

  • Hypophysitis: A Rare Cause of Impaired Consciousness in a Middle-Aged Woman.

    abstract:Background:Hypophysitis occurs predominantly in women, usually during pregnancy or postpartum period. Hypophysitis involving the anterior pituitary often presents with adrenal insufficiency. Design/Methods:We describe a 43-year-old woman who presented with recurrent episodes of alteration of sensorium due to hyponatre...

    journal_title:Neurology India

    pub_type:

    doi:10.4103/0028-3886.299159

    authors: Baby N,Varghese P,Kunnathuparambil SG,Kuriakose AM

    更新日期:2020-09-01 00:00:00

  • Stroke risk factors and subtypes in different age groups: a hospital-based study.

    abstract:BACKGROUND/AIMS:To compare the influence of stroke risk factors between different stroke types and age groups in Taiwan. MATERIALS AND METHODS:During the study period, March 2007 to August 2008, 1,161 patients with acute ischemic stroke were admitted to the neurological ward. All the patients had risk factors work up ...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.73747

    authors: Wu CY,Wu HM,Lee JD,Weng HH

    更新日期:2010-11-01 00:00:00

  • Fever is associated with third ventricular shift after intracerebral hemorrhage: pathophysiologic implications.

    abstract:BACKGROUND:Studies have shown the detrimental effect of increased temperature on brain injury. Fever is common after intracerebral hemorrhage (ICH). The term 'central fever' is often used when no cause is identified. AIM:The aim of the study was to determine the correlation of fever with third ventricular shift in 61 ...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.16411

    authors: Deogaonkar A,De Georgia M,Bae C,Abou-Chebl A,Andrefsky J

    更新日期:2005-06-01 00:00:00

  • Endoscopic treatment of the suprasellar arachnoid cyst.

    abstract::Surgical options for suprasellar arachnoid cyst are cystoperitoneal shunt, craniotomy fenestration and endoscopic fenestration. Endoscopic management has been found to be safe and effective. We report our experience with endoscopic management in 12 (male five, female seven; age range 8 months to 42 years) patients wit...

    journal_title:Neurology India

    pub_type: 杂志文章

    doi:10.4103/0028-3886.63772

    authors: Yadav YR,Parihar V,Sinha M,Jain N

    更新日期:2010-03-01 00:00:00