Abstract:
:Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Faber I,Servelhere KR,Martinez AR,D'Abreu A,Lopes-Cendes I,França MC Jrdoi
10.1590/0004-282x20130248subject
Has Abstractpub_date
2014-03-01 00:00:00pages
219-26issue
3eissn
0004-282Xissn
1678-4227pii
0004-282X20130248journal_volume
72pub_type
杂志文章,评审abstract::We analyzed a group of patients with the diagnosis of internal carotid aneurysms in its intracavernous segment, with emphasis in prevalence, clinical features, treatments, evolution and neurological prognosis. Neurological signs and symptoms at initial presentation were registered and compared with final outcome. Pati...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000200009
更新日期:2008-06-01 00:00:00
abstract:OBJECTIVE:to describe clinical and laboratorial characteristics of acute bacterial meningitis in infants. METHOD:data from the prospective follow-up of infants with acute bacterial meningitis, admitted at the Hospital Couto Maia between March and December 1997, were analyzed with specific statistical software. RESULT...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::The prevalence of excessive daytime sleepiness (EDS) in general population was determined by means of 408 home interviews of adults, in a representative sample of Campo Grande city, Brazil. The random sample was stratified by sex, age and economic social status. EDS was considered in those with indexes 11 or more in t...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:Painful shoulder is considered the most common complication of hemiplegic/parethic (H/P) stroke patients. It is a negative factor for neuromotor recovery. PURPOSE:To study the effects of kinesiotherapy treatment on shoulder pain prevention, and as a secondary endpoints, to analyze muscle strength of H/P sho...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2003000500012
更新日期:2003-09-01 00:00:00
abstract::The clinical, laboratorial and radiological features of a 3-month-old child with neurocutaneous melanosis are described. The patient was born with multiple disseminated benign cutaneous nevi, proven by skin-biopsy, and presented with drug-resistant seizures and psycho-motor retardation. Serial cerebrospinal fluid stud...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1978000200008
更新日期:1978-06-01 00:00:00
abstract::A case of neuromotor retardation in association with chromosome 1qh's reported. Chromosomes analysis of the patient and three relatives showed increased long arm on the n. degrees 1 chromosome, in all of them. However it is wmphasized that the clinical feautre could be secondary to various non genetics factors, also. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1976-12-01 00:00:00
abstract:UNLABELLED:The aim of this study was to compare qualitative visual analysis with semi-quantitative analysis in the diagnosis of mesial temporal sclerosis (MTS) using FDG-PET. METHODS:This study included 21 patients with histopathological confirmation of MTS. FDG-PET visual analysis data were based on clinical reports ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2001000600007
更新日期:2001-12-01 00:00:00
abstract::Neuromyelitis of cyanocobalamin deficiency (group 1) post vaccination myelopathy (group 2), multiple sclerosis and neuromyelitis optica (group 3) are studied comparatively as to the respective cerebrospinal fluid changes on cytology, proteins and gamma globulins. Changes were found to be more intense and frequent in t...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1981000300005
更新日期:1981-09-01 00:00:00
abstract:OBJECTIVE:To report a case of ganglioneuroblastoma of cerebellum, with emphasis to the neuroimaging and pathological findings. CASE REPORT:A one year and eight-month-old girl presented with a two-month history of hypoactivity and tremor in the legs. The MRI showed an enhancing cerebellar mass hypointense on T1 and hyp...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200029
更新日期:2007-06-01 00:00:00
abstract::Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000300024
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:To show data on the performance of healthy subjects in the Frontal Assessment Battery (FAB), correlating with gender, age, education, and scores in the Mini-Mental State Examination (MMSE). METHODS:Two hundred and seventy-five healthy individuals with mean age of 66.4 ± 10.6 years-old were evaluated. Mean to...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012005000009
更新日期:2012-04-01 00:00:00
abstract::Thirty-four consecutive adult patients with subdural traumatic hygroma were analysed for clinical evolution, serial computed tomography scan (CT), and magnetic resonance imaging (MRI) over a period of several months. Five of the patients presented CT scan and MRI evolution data showing increasing density over a period...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000100015
更新日期:2007-03-01 00:00:00
abstract::We studied 1086 AIDS patients in the last six years. Of these 389 (35.82%) had neurological manifestation and 7 (1.8%) male patients had abnormal involuntary movements (parkinsonism in 3, hemichorea-hemiballism in 2, spinal myoclonus in 1 and rubral tremor in another). All patients were men, 5 white and 2 black. Four ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1993000400011
更新日期:1993-12-01 00:00:00
abstract::The involvement of the central nervous system in paracoccidioidomycosis is more frequent than previously thought. The first reference to the possibility that Paracoccidioides brasiliensis could affect the central nervous system was by Pereira & Jacobs in 1919. Since then, a great number of other studies has showed thi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000400024
更新日期:2000-09-01 00:00:00
abstract::The aims of this study were to identify the most common vestibular syndromes in a dizziness unit, and to observe their clinical aspects and response to treatment. Five hundred and fifteen patients were studied retrospectively in two institutions. Aspects of anamnesis, physical examination and the response to treatment...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000100025
更新日期:2005-03-01 00:00:00
abstract:INTRODUCTION:Epileptic manifestations of Neurocysticercosis (NC) appear to depend on number and localization of the cysts. The objective of this study was to investigate the relationship between CT findings, number of parasites and the evolutive stage of the cysts, and the prognosis of epilepsy in children with NC. ME...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000100001
更新日期:2002-03-01 00:00:00
abstract::The clinical and neurological study in four neonates infants with cerebral infarction are reported. The purpose of this study is to call attention for the clinical course, cranial ultrasound, computed tomography and laboratories tests, in order to evaluate the neurological sequelae. A careful evaluation has be taken i...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000100016
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:To assess the functional capacity and to determine the difference between the means of functional capacity (basic and instrumental activities of daily living) and the age groups of elderly residents in an outlying area in the hinterland of Bahia/Northeast of Brazil. METHOD:Analytical study with cross-section...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2010000100009
更新日期:2010-02-01 00:00:00
abstract::Headache is a common complaint with a high prevalence in ambulatory settings. The physical and neurological examinations are frequently normal. The use of questionnaires as a screening methods for patients with primary headache could facilitate the diagnosis in non-specialized medical centers. In the present study, we...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000300003
更新日期:1997-09-01 00:00:00
abstract::Sleep habits in childhood vary in function of physiological factors. Cultural traits also influence sleep habits. This research evaluates sleep habits of Native Brazilian Terena children. The Terena group here studied live in the central region of Mato Grosso do Sul, Brazil, on the plains; they are peaceful and dedica...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000500001
更新日期:1998-12-01 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::The diagnosis of primary intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) has become easier with the advent of modern imaging techniques. The incidence of ICH has declined, while SAH has remained relatively constant. The prognosis for both disorders remains dismal and the mortality rate is substantiall...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1991000300001
更新日期:1991-09-01 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:OBJECTIVE:To assess cognition in major depressed (MD), Alzheimer's disease (AD), and depression in AD elderly. METHOD:Subjects were evaluated by Mini Mental, Rey Auditory Verbal Learning Test, Rey Complex Figure, Digit Span, Similarities, Trail Making A/B, Verbal Fluency and Stroop. One-way ANOVA and multivariate mode...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20140108
更新日期:2014-09-01 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::We studied the clinical records of 280 patients admitted to our Hospital between 1985 and 1988, with a positive Elisa test for HIV-related antibodies: 15.71% (44) of these patients exhibited clinical abnormalities related to disease of the CNS. In 6 (13.6%) patients the neurological complication was the first manifest...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1989000400002
更新日期:1989-12-01 00:00:00
abstract:INTRODUCTION:Studies have established higher prevalence of psychiatric disorders in diabetic patients. OBJECTIVE:To describe the socio-demographic and clinic characteristics and to compare the frequency of them in the diabetic and non-diabetic populations. METHOD:Transversal study with comparing groups. Eighty four d...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000500020
更新日期:2006-09-01 00:00:00
abstract::Skin biopsy has become an attractive technique to evaluate the terminal regions of small nerve fibers. There is extensive innervation of the skin by both sensory and autonomic fibers as demonstrated by staining for the pan-axonal marker PGP 9,5. The normal pattern is fundamental before any study, since three different...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2004000200015
更新日期:2004-06-01 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:AIM:The role of smoking as risk factor for stroke is controversial. An ecological design study was performed to test the association between stroke mortality and smoking in Brazil. Lung cancer mortality was used as a surrogate for smoking habit. METHODS:The mortality rate for stroke (ICD-9:430-438) and lung cancer (IC...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1995000200009
更新日期:1995-06-01 00:00:00