Abstract:
:Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor scholastic performance in childhood followed by gradually progressive cognitive decline. He presented to us with severe cerebellar ataxia and oculomotor apraxia. The key features that led to the diagnosis of CTX were the history of cataracts in childhood and Achilles tendon xanthoma. His brain magnetic resonance imaging showed characteristic features of CTX, and the diagnosis was confirmed by demonstrating the mutation in exon 2 of the CYP27A1 gene. The recognition of CTX earlier could have prevented his significant disabilities. The definitive treatment is oral chenodeoxycholic acid, which will prevent the accumulation of the cholestanol, which is thought to be responsible for the neurotoxicity.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Shaji B,Srikumar B,Ramachandran Ddoi
10.4103/aian.AIAN_126_18subject
Has Abstractpub_date
2019-10-01 00:00:00pages
493-496issue
4eissn
0972-2327issn
1998-3549pii
AIAN-22-493journal_volume
22pub_type
abstract:BACKGROUND:Microbleeds (MBs) are observed frequently in Alzheimer's disease (AD) and suggested to play a crucial role in the pathophysiology, but their clinical significance remains unclear. MATERIALS AND METHODS:The study recruited 100 patients with AD who were diagnosed at the memory clinic in Seoul Medical Center i...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.194426
更新日期:2016-10-01 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:OBJECTIVES:Cross sectional studies have reported a tremendous amount of stress in caregivers of patients with Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI). The present study aimed at evaluating the perceived stress in caregivers of patients with AD and MCI compared to controls. MATERIALS AND METHODS:Ca...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.167695
更新日期:2016-01-01 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::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 precise pathophysiology of primary writing tremor (PWT) and writer's cramp (WC) is not known. The aim of this study is to compare the cerebral activation patterns in patients of PWT, WC and healthy controls, during a task of signing on paper, using functional magnetic resonance imaging (fMRI). MATERIALS...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.70884
更新日期:2010-07-01 00:00:00
abstract::Stent retrieval system is an established treatment modality in acute ischemic stroke with large vessel occlusion. Here, we describe a complication which occurred during mechanical thrombectomy in three cases where the clot dislodged during retrieval. There was a possibility of the clot getting reinjected into the arte...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.176866
更新日期:2016-04-01 00:00:00
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::This cross-sectional case control study included subjects aged between 18 and 65 years with diagnosis of myasthenia gravis (MG) in Osserman's Stage I and Stage IIa and those in remission with positive and negative acetylcholine receptor antibody (AChRAb). They were evaluated for heart rate variability (HRV) and other ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.116912
更新日期:2013-07-01 00:00:00
abstract:Background:Migraine is a common cause of primary headache, with women being affected thrice as common as men. Very few studies are available on sexual dysfunction in female migraineurs. There are no published studies done on the same in India till now. This study was done to look for the prevalence and predictors of se...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_508_18
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:Mechanical thrombectomy (MT) is the most effective treatment in large vessel occlusion (LVO). We have analyzed our initial experience of MT of 137 patients in anterior circulation (AC) and posterior circulation (PC) LVO using Solitaire stent retriever device. METHODS:Retrospective cohort analysis of 112 AC ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_158_17
更新日期:2017-07-01 00:00:00
abstract:Background:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease that selectively affects the optic nerves and spinal cord and generally follows a relapsing course. Therapeutic plasma exchange (TPE) appears to be effective in patients with central nervous system inflammatory demyelinating disease who do n...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_330_17
更新日期:2018-04-01 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::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:BACKGROUND:Intrathecal methotrexate (ITMTX) is an important component in the treatment as well as prophylaxis of leukemia/lymphoma. ITMTX can cause chemical meningitis characterized by vomiting, headache, and fever lasting 2-5 days with spontaneous resolution of symptoms which differentiates this syndrome from bacteria...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.150586
更新日期:2015-04-01 00:00:00
abstract:Background:Rules and regularities are embedded in all the language structures. Extracting these helps in speech-language acquisition and processing. Sentence processing relies on transitional probability of the dependencies and its distance which are present within the sentence. Aim:To investigate the effect of distan...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_510_20
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:Frontal executive dysfunction (FED) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile myoclonic epilepsy (JME). We aimed to compare JME patients with and without FED by group analysis of voxel-based morphometric (VBM) estimates of brain volume in MRI. SUBJECTS A...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_44_17
更新日期:2017-07-01 00:00:00
abstract::The field of language research has seen tremendous progress in the last two decades. Advances in neuro-imaging and stimulation mapping have changed the way we conceive the neural basis of speech and language processing. In the past, the Wernicke-Lichtheim model was the most influential model explaining the neuro-anato...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_487_20
更新日期:2020-09-01 00:00:00
abstract::Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive and relatively painless tool that has been used to study various cognitive functions as well as to understand the brain-behavior relationship in normal individuals as well as in those with various neuropsychiatric disorders. It has also been used as...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.91935
更新日期:2011-10-01 00:00:00
abstract::[This corrects the article on p. 49 in vol. 18, PMID: 25745311.]. ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 已发布勘误
doi:10.4103/0972-2327.162306
更新日期:2015-07-01 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
abstract:BACKGROUND:There is paucity of methodologically sound published studies on intracerebral hemorrhage (ICH) from India, on pub med/embase search. AIMS:To explore etiology of ICH and correlate the causes, location, and size of hemorrhage to clinical outcome. MATERIALS AND METHODS:A hospital-based descriptive study from ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.104333
更新日期:2012-10-01 00:00:00
abstract::We report a case of primary Sjögren's syndrome presenting with multiple cranial nerve palsies and radiological evidence of cranial pachymeningitis and hypophysitis. A 47-year-old woman developed right sensory neural hearing loss followed, 2 months later, by right facial palsy. Cranial magnetic resonance imaging showed...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.53083
更新日期:2009-04-01 00:00:00
abstract::Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both. Dystonic movements are typically patterned, associated with twisting of body parts, and may have tremulousness. Dystonia is usually initiated or worsened by vo...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_27_20
更新日期:2020-07-01 00:00:00
abstract::The nosology, classification and pathophysiology of ophthalmoplegic migraine (OM) remains complex and debatable. A recently proposed classification of OM leaves several caveats. A critical analysis of all reported cases of OM (1993-2010) has been made incorporating the authors' own experience to arrive at a simple, un...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.99985
更新日期:2012-08-01 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::Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of s...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.112494
更新日期:2013-04-01 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:INTRODUCTION:Neurologists in their clinical practice are faced with inquiries about the suitability of stem cell approaches by patients with a variety of acute and chronic (namely neurodegenerative) disorders. The challenge is to provide these patients with accurate information about the scope of stem cell use as well ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.186825
更新日期:2016-07-01 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