Abstract:
:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Incecik F,Ozbek MN,Gungor S,Pepe S,Herguner OM,Mungan NO,Gungor S,Altunbasak Sdoi
10.4103/0972-2327.120449subject
Has Abstractpub_date
2013-10-01 00:00:00pages
720-2issue
4eissn
0972-2327issn
1998-3549pii
AIAN-16-720journal_volume
16pub_type
abstract::Neuromyelitis optica is an inflammatory demyelinating disorder of the central nervous system. The discovery of a specific antibody (NMO IgG /aquaporin-4 antibody) in patients with this condition has led to a marked revival of research on the disease. This article summarizes the major advances in neuromyelitis optica, ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.58277
更新日期:2009-10-01 00:00:00
abstract:Introduction:Serotonin syndrome (SS) is a drug-induced clinical syndrome that results from the excess intrasynaptic concentration of serotonin. Prospective observations are limited for SS. Methods:We prospectively recruited 45 consecutive adult patients (>18 years) fulfilling the Hunter's criteria for SS. All patients...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_344_18
更新日期:2019-01-01 00:00:00
abstract:Objectives:Stress, anxiety, and depression are known to be associated with the development of neurodegenerative disorders through interactions with the underlying pathophysiology. We hypothesized that the presence of these symptoms contributes to cognitive disturbances and dementia in Parkinson's disease (PD). The pres...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_341_18
更新日期:2019-10-01 00:00:00
abstract::Meningitis and meningoencephalitis account for the majority of central nervous system infections by Listeria monocytogenes (Lm). Macroscopic listerial brain abscess is a rare infection. Early recognition of Listeria brain abscesses represents a major diagnostic challenge. Mortality from Listeria brain abscesses is hig...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/aian.AIAN_233_18
更新日期:2020-01-01 00:00:00
abstract::Cerebral vasculitis secondary to Crohn's disease (CD) seems to be a very rare phenomenon. We report a 39-year-old male who presented with headache, vomiting, and left-sided weakness in the known case of CD. Cross-sectional imaging (computed tomography and magnetic resonance imaging,) showed right gangliocapsular acute...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.144035
更新日期:2014-10-01 00:00:00
abstract::A case of Nicolau syndrome (NS) in a 36-year-old adult taking an unusual and devastating hyperacute irreversible paraplegia after an intramuscular injection of benzathine penicillin as a part of routine chemoprophylaxis of her rheumatic heart disease is reported. Although this syndrome is a considerably rare, iatrogen...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/aian.AIAN_298_18
更新日期:2019-01-01 00:00:00
abstract::The global workspace of consciousness was proposed in its elementary framework by Baars, in 1982. Since the time of inception, there have been many speculations and modifications of this theory, but the central theme has remained the same, which refers to the global availability of information in the brain. However, t...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.42933
更新日期:2008-07-01 00:00:00
abstract::The medical profession is considered to be one of the noblest professions in the world. The practice of medicine is capable of rendering noble service to humanity provided due care, sincerity, efficiency, and professional skill is observed by the doctors. However, today, the patient-doctor relationship has almost dimi...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
doi:10.4103/0972-2327.192886
更新日期:2016-10-01 00:00:00
abstract::Kleine-Levin syndrome (KLS) is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hypersexuality. Each episode is of brief duration varying from a week to 1-2 months and affected people a...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.74185
更新日期:2010-10-01 00:00:00
abstract::Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determinatio...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.64645
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. OBJECTIVE:A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initia...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.176861
更新日期:2016-04-01 00:00:00
abstract::Neurological complications following honey bee sting are rare. We report a case of a 3-year-old girl who developed acute polyradiculoneuropathy following honey bee sting, which was diagnosed by nerve conduction studies. ...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.95000
更新日期:2012-04-01 00:00:00
abstract::The authors report a family from Punjab (India) with 10 members having benign familial neonatal convulsions (also known as benign familial neonatal seizures) in two generations. This disorder is quite rare. The clinical presentation of index case along with the findings of computed tomography of the brain and electroe...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.40227
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:There is paucity of reports on thyrotoxic periodic paralysis (TPP) from India. We report the patients with TPP and compare them with idiopathic hypokalemic periodic paralysis (IHPP). MATERIALS AND METHODS:Patients with hypokalemic periodic paralysis (HPP) treated during the past 11 years were evaluated retro...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.99708
更新日期:2012-07-01 00:00:00
abstract::Limbic encephalitis (LE) is a neurological syndrome that may present in association with cancer, infection, or as an isolate clinical condition often accompanying autoimmune disorders. LE associated with glutamic acid decarboxylase antibodies (anti-GAD) is rare in children. Here, we characterized the clinical and labo...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.150628
更新日期:2015-04-01 00:00:00
abstract::This review is on ultrastructure and subcellular physiology at normal and abnormal neuromuscular junctions. The clinical and electrophysiological findings in myasthenia gravis, Lambert-Eaton myasthenic syndrome (LEMS), congenital myasthenic syndromes, and botulinum intoxication are discussed. Single fiber electromyogr...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.107690
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Hyponatremia is a common electrolyte disorder encountered in patients of neurological disorders which is usually either due to inappropriate secretion of Antidiuretic hormone (SIADH) or cerebral salt wasting syndrome (CSWS). We conducted this study in a tertiary care hospital to determine the incidence and...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.128554
更新日期:2014-01-01 00:00:00
abstract:Background:Idiopathic inflammatory myopathies (IIMs) are a group of chronic, autoimmune disorders which include a new entity, necrotizing autoimmune myopathy (NAM). NAM lacks inflammation and presents with markedly elevated creatinine phosphokinase (CPK) levels. It is associated with connective tissue diseases (CTDs), ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_389_17
更新日期:2018-01-01 00:00:00
abstract::Tension type headaches are common in clinical practice. Earlier known by various names, the diagnosis has had psychological connotations. Recent evidence has helped clarify the neurobiological basis and the disorder is increasingly considered more in the preview of neurologists. The classification, clinical features, ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.100023
更新日期:2012-08-01 00:00:00
abstract::Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin su...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_678_19
更新日期:2020-05-01 00:00:00
abstract::Young onset dementia is a challenge. We describe a case, where a patient presented with psychosis, dementia and MRI showing pulvinar sign, all of this typical of variant Cruetzfelt Jacob disease (CJD). Subsequent investigations lead to the diagnosis of a treatable illness and patient was improved and MRI sign reversed...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.132645
更新日期:2014-04-01 00:00:00
abstract::Pursuing a diagnosis despite a negative nerve biopsy report requires a strong clinical conviction. Paying attention to clinical details and a diligent review of medical records is needed to solve cases in which the diagnosis is not obvious despite numerous tests. We present once such case of an elderly man with chroni...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.194413
更新日期:2016-10-01 00:00:00
abstract::The following article recommends guidelines for epilepsy surgery for India. This article reviews the indications, the various surgical options available and the outcome of surgery for drug resistant epilepsy based on current evidence. Epilepsy surgery is a well-established option for patients who have been diagnosed t...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.64625
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate Iintra-rater reliability of the Modified Tardieu Scale (MTS) in elbow flexors and ankle plantar flexors in adult subjects with stroke. MATERIALS AND METHODS:A total of 91 subjects with stroke participated in this test-retest study. Intra-rater reliability of the ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.78045
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the effect of sodium valproic acid (SVA) on the sleep quality of patients with juvenile myoclonic epilepsy (JME). MATERIALS AND METHODS:Standardized sleep questionnaires viz. Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to 30 ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.165472
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:The sural sensory nerve action potential (SNAP) is an important electrodiagnostic study for suspected peripheral neuropathies. Incorrect technique and unavailability of reference data can lead to erroneous conclusions. OBJECTIVES:To establish reference data for sural SNAP in age-stratified healthy subjects ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.186786
更新日期:2016-07-01 00:00:00
abstract::Stroke is a major health problem world-wide and its burden has been rising in last few decades. Until now tissue plasminogen activator is only approved treatment for stroke. Angiogenesis plays a vital role for striatal neurogenesis after stroke. Administration of various growth factors in an early post ischemic phase,...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
doi:10.4103/0972-2327.128519
更新日期:2014-01-01 00:00:00
abstract:AIMS:The aim of the study was to study the clinical profile of the patients with Parkinson's disease (PD) and psychosis. SETTINGS AND DESIGN:This was a prospective, cross sectional, hospital-based study done at the Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India from Se...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.132625
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The purpose of this study was to assess the effectiveness of modified constraint induced movement therapy (m-CIMT) in stroke subjects. MATERIALS AND METHODS:A total of forty sub-acute stroke subjects were randomly assigned to either a m-CIMT (n = 20) or in a control group (n = 20). The m-CIMT gr...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.112461
更新日期:2013-04-01 00:00:00
abstract::West Nile Virus (WNV) is an arthropod-borne flavivirus, which causes flu-like illness and is sporadically associated with encephalitis. Transmission to humans occurs following a bite from an infected mosquito, which acquires the virus after feeding on dead birds. WNV meningoencephalitis is a rare infection with a neur...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.128564
更新日期:2014-01-01 00:00:00