Abstract:
:Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the "HD" phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Lima E Silva TC,Serra HG,Bertuzzo CS,Lopes-Cendes Idoi
10.1590/s0004-282x2000000100002subject
Has Abstractpub_date
2000-03-01 00:00:00pages
11-7issue
1eissn
0004-282Xissn
1678-4227pii
S0004-282X2000000100002journal_volume
58pub_type
杂志文章abstract::The link between various air pollutants and hospitalization for epilepsy has come under scrutiny. We have proposed that exposure to air pollution and specifically the pervasive agricultural air pollutant and greenhouse gas, nitrous oxide (N2O), may provoke susceptibility to neurodevelopmental disorders. Evidence suppo...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170107
更新日期:2017-09-01 00:00:00
abstract::One hundred thirty five patients with carpal tunnel syndrome were studied trough electrophysiological techniques. Nerve sensory conductions, motor conductions and electromyography were performed in all patients and the results discussed. The authors call the attention for the technic of sensory conduction stimulating ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1981000400007
更新日期:1981-12-01 00:00:00
abstract::We report a case of sarcoidosis in a 21 years old male with history of headache since he was three years old, with absence of abnormalities in a brain computerized tomography (CT). Brain magnetic resonance (MRI) disclosed a meningeal involvement with intense and homogeneous enhancement of the right fronto-temporal con...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2001-06-01 00:00:00
abstract::We present our experience with 36 cases of nonfunctional pituitary adenomas. These tumors were divided into non reactive and inactive in agreement with the immunohistochemical study. They present with visual symptoms, mainly bitemporal hemianopsia; they were macroadenomas, either invasive or non invasive, in both grou...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000100021
更新日期:2002-03-01 00:00:00
abstract::Spontaneous cervical artery fistulas are rare arteriovenous malformations between the artery and veins of the neighborhood. We report a case of non traumatic vertebral arteriovenous fistula in a girl, aged 9 years, treated by endovascular approach. Under general anesthesia and with fluoroscopic guidance, using a endov...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. METHODS:A cross-sectional study using three ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190032
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Transcranial direct current stimulation (tDCS) has been investigated in movement disorders, making it a therapeutic alternative in clinical settings. However, there is still no consensus on the most appropriate treatment protocols in most cases, and the presence of deep brain stimulation (DBS) electrodes has...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20190019
更新日期:2019-03-01 00:00:00
abstract::A retrospective study was performed on 34 patients with photosensitivity detected on the electroencephalogram. This group was compared to an aleatory sample, with 218 patients. The objectives were to evaluate the photosensitivity and: type of epilepsy, age of onset of seizures, sex ratio, frequency of seizures, and fa...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1990000200005
更新日期:1990-06-01 00:00:00
abstract::A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathologica...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000500019
更新日期:2007-09-01 00:00:00
abstract::The risk/benefit ratio of acute anticoagulation in ischaemic cerebro-vascular disease is not clearly established. A simple and safe intermittent intravenous heparin regimen (20000 IU daily) was used prospectively in 50 patients of 57 +/- 14 (m +/- sd) years of age whose blood pressures ranged from normal to severe hyp...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1986000100003
更新日期:1986-03-01 00:00:00
abstract::Using the clinical quantification of the neurologic symptomatology the authors made observations and avaliated the action of Ciba 34.647-Ba, a GABA derivative, in 12 patients suffering from spasticity and motor incapacity due to spinal cord lesions. The results are reported emphasizing the effects of the drug on the m...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000400008
更新日期:1977-12-01 00:00:00
abstract::The case of a 60 year-old man who had an indifferenciated carcinoma in the lung is reported. He had received cobaltotherapy and had improved. After 3 months a lumbar pain had began and the patient was hospitalized. A myelography with lipiodol demonstrated and intra-dural mass. At operation a big intra-dural tumor incl...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1976000300010
更新日期:1976-09-01 00:00:00
abstract::Alzheimer disease (AD) is usually associated with cognitive, language and behavioral impairments, which can get more and more serious as the disease progresses. The aim of this study is to verify language disorders in the early stages of this disease. Twelve patients meeting criteria for problable AD were evaluated by...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000200020
更新日期:2005-06-01 00:00:00
abstract:AIM:To evaluate smell recognition in pervasive developmental disorders (PDD). METHOD:Twenty-one PDD (experimental group) and 21 matched controls (control group) male adolescents were submitted to a standardized, 12-stimuli, smell battery in three moments: with no identification suggestion; associated to four linguisti...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000700021
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVE:To assess the effectiveness of balance exercises by means of virtual reality games in Parkinson's disease. METHODS:Sixteen patients were submitted to anamnesis, otorhinolaryngological and vestibular examinations, as well as the Dizziness Handicap Inventory, Berg Balance Scale, SF-36 questionnaire, and the SR...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170195
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVES:The objective of the present study was to assess the presence of cognitive deficits in patients with chronic migraine, and to assess the main factors that trigger cognitive disorders, such as comorbidities or the use of medications. METHODS:Chronic migraine and control groups were interviewed in a case-cont...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180085
更新日期:2018-09-01 00:00:00
abstract::Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40% of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000500030
更新日期:2006-09-01 00:00:00
abstract::Craniospinal radiation therapy for treatment of brain tumors may result in growth hormone (GH) insufficiency with resultant linear growth retardation, one of the most common complications. We report the case of a 10-year-old boy presenting headache associated to vertigo, nausea and vomiting. A CT scan showed an homoge...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000300030
更新日期:2003-06-01 00:00:00
abstract::Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, th...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000100035
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVE:To investigate the association between total plasma homocysteine concentration, C677T and A1298C polymorphisms in MTHFR gene and Alzheimer's disease (AD) development. METHOD:Forty-three patients with probable (63%) and possible (37%) AD and 50 non-demented controls were evaluated. Groups did not differ as to...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000600010
更新日期:2006-12-01 00:00:00
abstract::A case of central nervous system histoplasmosis located at the pons is reported. The authors point out difficulties for the diagnosis of the pathology during life and some aspects of the treatment and their results. The rarity of the process is emphasized. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00
abstract::Twenty seven patients with migraine without aura were investigated. The age was between 12 and 54 years; 5 were men and 22 women. The diagnosis of migraine was made according to the classification proposed by the International Headache Society. The method of visual evoked potential was performed with pattern reversal ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000400005
更新日期:1994-12-01 00:00:00
abstract::Primary lateral sclerosis (PLS) is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs involvement,rare cranial nerve involvement, typical sparing of all sensory modalities, sphincteric function and eventually mild cognitive changes...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000300018
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS). METHOD:Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial p...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000500009
更新日期:2007-09-01 00:00:00
abstract::Therapeutic aspects of convulsive and non convulsive status epilepticus observed in fourteen patients with Lennox-Gastaut syndrome were studied. A temporal relationship between the status epilepticus onset and the beginning of treatment with chlonazepam and diphenylhydantoin was observed; these drugs withdrawal was fo...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000300006
更新日期:1977-09-01 00:00:00
abstract::The aim of this study was to investigate the association between headache and alcohol consumption among medical students. 480 medical students were submitted to a questionnaire about headaches and drinking alcohol. Headache was assessed by ID-Migraine and functional disability was evaluated with MIDAS. The evaluation ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2011000500009
更新日期:2011-08-01 00:00:00
abstract::Eosinophilic granuloma (EG) is a benign condition of histocytes proliferation localized or multifocal. It is presents in the cervical spine in 1.5%-20% of the cases of EG. We report the case of a seven-year-old girl that presented with a one month history of cervical pain, persistent wryneck and vicious posture of the...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000100030
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Attention-deficit hyperactivity disorder (ADHD) is associated with school failure. Inattention has been mainly implicated for this association. Oppositional-defiant disorder's (ODD) impact on academic performance remains controversial, because of the high comorbidity between ODD and ADHD. OBJECTIVE:To under...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000600010
更新日期:2008-12-01 00:00:00
abstract::Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122 cases of dystonic syndrome (62.3%...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1992000400003
更新日期:1992-12-01 00:00:00
abstract::The main objective of this manuscript is to describe some personal and professional aspects of two outstanding researchers and pioneers in neuro-otology. Among other achievements, Margaret Ruth Dix, and Charles Skinner Hallpike, designed the most-used provocative test for positional nystagmus for the diagnosis of lith...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20180075
更新日期:2018-08-01 00:00:00