Abstract:
:We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information, the 118 individuals consistently affected were distributed in generations IV (n=2), V (n=28), VI (n=57), VII (n=25) and VIII (n=6) of the genealogical tree. Sixty affected members are alive, 37 of them (61.6%) live in the Northeast region, 12 (20%) in the Southeast, 9 (15%) in the Center-West and 2 (3.3%) in the North. This genealogical survey was based only on 4 of the 10 children of the ancestral couple since the destiny of the remaining 6 is unknown. We propose that other Brazilian families with SCA7 may have the same genetic origin.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
da Cunha Linhares S,Horta WG,Marques Júnior Wdoi
10.1590/s0004-282x2006000200010subject
Has Abstractpub_date
2006-06-01 00:00:00pages
222-7issue
2Aeissn
0004-282Xissn
1678-4227pii
S0004-282X2006000200010journal_volume
64pub_type
杂志文章abstract:OBJECTIVE:To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imaging (MRI) findings at initial evaluation and at the follow-up. CASE REPORT:Five year-old boy, who was asymptomatic, presented with diagnosis of X-ADL for MRI evaluation. The initial brain MRI ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000600030
更新日期:2006-12-01 00:00:00
abstract::The choline/N-acetyl-aspartate (Cho/NAA) ratio, obtained by the multivoxel spectroscopy with short echo time (TE), was evaluated, in the histological grading of the brain astrocytomas (grades I, II and III-IV) in comparison with the normal cerebral parenchyma. A significant increase (p<0.05) in the average ratios of C...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200019
更新日期:2007-06-01 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::Epilepsy was surveyed in the largest psychiatric hospital in the Santa Catarina State, southern Brazil. This establishment was designed for one thousand long-term beds but at the time of the survey there were 1126 inpatients. Diagnosis ranged from anxiety neurosis to schizophrenia although patients with epilepsy, with...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1990000300001
更新日期:1990-09-01 00:00:00
abstract::Emphasis is placed in the difficulty in conceptualizing sexuality as a complex and controversial subject. This is a presentation of a concept based on freudian psychoanalysis. With this in mind, many of Freud's references are collected from the Brazilian Standard Edition of the Complete Psychological Works of Sigmund ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000100024
更新日期:1994-03-01 00:00:00
abstract:OBJECTIVE:The aim of the present study was to define normative data of phrenic nerve conduction parameters of a healthy population. METHODS:Phrenic nerve conduction studies were performed in 27 healthy volunteers. RESULTS:The normative limits for expiratory phrenic nerve compound muscle action potential were: amplitu...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170153
更新日期:2017-12-01 00:00:00
abstract:UNLABELLED:Fibromatosis is a locally aggressive, proliferative fibroblastic lesion affecting musculoaponeurotic structures, most often in the limbs and trunk. Intracranial fibromatosis is extremely rare and requires aggressive treatment to prevent recurrence. CASE DESCRIPTION:We present the case of a 20 year old woman...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000300031
更新日期:2006-06-01 00:00:00
abstract:UNLABELLED:Diagnosis of dementia is a challenge in populations with heterogeneous educational background. OBJECTIVE:To compare the accuracies of two delayed recall tests for the diagnosis of dementia in a community with high proportion of illiterates. METHOD:The delayed recall of a word list from the CERAD battery (D...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000100008
更新日期:2006-03-01 00:00:00
abstract::Three cases of peritoneal pseudocysts are reported with guidelines for the diagnosis of this type of complication. The authors point out the value of the following signs: 1--increase of ventricular pressure with worsening of the clinical picture; 2--localized pain in the abdomen; 3--difficulty to depress the capsule; ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1981000100006
更新日期:1981-03-01 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::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::The authors describe the extraordinary contribution to science made by José Dantas de Souza Leite, who graduated from the Bahia School of Medicine and trained in Prof. Charcot's Neurology Service under the supervision of Charcot's most able pupil, Dr. Pierre Marie. Souza Leite presented his doctoral thesis on acromega...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20150054
更新日期:2015-07-01 00:00:00
abstract::This prospective study evaluates the possible advantages of wrist immobilization after open carpal tunnel release comparing the results of two weeks immobilization and no immobilization. Fifty two patients with idiopathic carpal tunnel syndrome were randomly selected in two groups after open carpal tunnel release. In ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,随机对照试验
doi:10.1590/s0004-282x2006000400013
更新日期:2006-09-01 00:00:00
abstract::The extra-intracranial bypass may be used in selected cases of brain vascular insufficiency refractory to clinical treatment. We report a case of encephalic ischemia in the territory of the right middle cerebral artery due to occlusion of the ipsilateral internal carotid artery, with consequent reduction of the perfus...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000200025
更新日期:2004-06-01 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::A Developmental Gerstmann syndrome in a 7 years-old-boy with hyperactivity, short attention span, acalculia, agraphia, right-left confusion, finger agnosia and constructional apraxia is reported. An initial trial with methylphenidate was done with good improvement regarding hyperactivity, attention span and constructi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1975000100009
更新日期:1975-03-01 00:00:00
abstract::Art and Medicine often mingle in the most unexpected ways. One can often find in pictorial art the representation of many medical conditions. The same can happen with sculptures; however, the finding of an urban sculpture in a public space with features of parkinsonism is unique. We reported how "The Shaking Man", an ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20130013
更新日期:2013-04-01 00:00:00
abstract::The mucopolysaccharidoses (MPS) are lysosomal storage diseases in which a specific enzyme defect causes glycosaminoglycans storage in tissues. The authors present a necropsy case of a 10 years old boy with clinical and laboratorial diagnosis of MPS. The necropsy revealed thickening of meninges, cardiac valves and hepa...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000100018
更新日期:1997-03-01 00:00:00
abstract::The results obtained in a casuistic of 170 patients with mental diseases and behavior disturbances treated by neurosurgical procedures are reported. The authors call attention to the advantages of the atraumatic stereotaxic psychosurgery over the major surgical procedures on the frontal lobes for the treatment of psyc...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000300004
更新日期:1977-09-01 00:00:00
abstract::Pseudoaneurysms of the extracranial vertebral artery are extremely rare due to their deep location and the anatomical protection of this artery. They can be caused by cervical traumas (firearm injuries, sports, hyperextension of the neck and iatrogeny). The authors report the case of a patient who developed a giant ps...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1996000200019
更新日期:1996-06-01 00:00:00
abstract::We report the case of a 32-year-old woman who complained of dull and compressing occipital pain, with unilateral radiation to the left frontal and supraorbital areas (of the sickening type). The radiological, clinical, neurosurgical and neuropathologic investigation disclosed a medulloblastoma bulging and tickening th...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000400027
更新日期:1998-09-01 00:00:00
abstract:UNLABELLED:Mechanical thrombectomy as an adjunctive to intravenous thrombolysis is now the standard treatment for acute ischemic stroke (AIS) due to large vessel occlusions. However, the best management of acute carotid tandem occlusions (CTO) remains controversial. METHOD:Twenty patients underwent endovascular treatm...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150213
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVE:To present the magnetic resonance (MR) imaging findings of 78 patients with meningiomas diagnosed in a single institution. METHOD:78 patients with histological proven intracranial meningioma were studied. There were 52 female and 26 male patients (median=56 years). All MR imaging examinations were performed ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000400012
更新日期:2007-09-01 00:00:00
abstract::More than 80 years after its introduction by Hans Berger, the electroencephalogram (EEG) remains as an important supplementary examination in the investigation of neurological disorders and gives valuable and accurate information about cerebral function. Abnormal EEG findings may include ictal patterns, interictal epi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2011000600020
更新日期:2011-10-01 00:00:00
abstract::We report the clinical, epidemiological and pathological findings of 28 patients with medulloblastoma: 22 were male; age ranged from 1 to 50 years, with a mean of 15 years. The most frequent symptoms and signs were headache (64%) and vomiting (64%). Only one patient showed a desmoplastic medulloblastoma variant, the o...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000100012
更新日期:2000-03-01 00:00:00
abstract::According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000400025
更新日期:1994-12-01 00:00:00
abstract:UNLABELLED:We previously demonstrated correlation between parasympathetic dysfunction and brain white matter lesions in chronic chagasic patients. OBJECTIVE:To correlate serum functional circulating antibodies with beta adrenergic (Ab-beta), muscarinic (Ab-M) or muscarinic and beta adrenergic (Ab-Mbeta) activity, the ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000400011
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:To assess the possible association of fatigue with self-esteem in multiple sclerosis (MS) patients.
METHOD:Thirty patients were prospectively assessed. None of them presented moderate or severe depression or anxiety and their degree of disability was low (EDSS journal_title:Arquivos de neuro-psiquiatria pub_type: 杂志文章 doi:10.1590/s0004-282x2009000500007 更新日期:2009-09-01 00:00:00
abstract::Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170049
更新日期:2017-06-01 00:00:00
abstract:UNLABELLED:Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. METHODS:We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collect...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20130021
更新日期:2013-05-01 00:00:00