Abstract:
:Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Salomão RP,Pedroso JL,Gama MT,Dutra LA,Maciel RH,Godeiro-Junior C,Chien HF,Teive HA,Cardoso F,Barsottini OGdoi
10.1590/0004-282X20160080subject
Has Abstractpub_date
2016-07-01 00:00:00pages
587-96issue
7eissn
0004-282Xissn
1678-4227pii
S0004-282X2016000700587journal_volume
74pub_type
杂志文章,评审abstract::Spinal extradural meningeal cysts are typically formed by a thin fibrotic membranous capsule, macroscopically similar that of an arachnoid membrane, filled by cerebro spinal fluid and related to a nerve root or to the posterior midline. Ventral location is extremely rare and when it occurs they usually cause spinal co...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000500026
更新日期:2005-09-01 00:00:00
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 asso...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000100002
更新日期:2000-03-01 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::The aim of this paper is to introduce compliance concept and to classify technicals, biologicas, socials and mixed factors that may influence compliance. The importance of conscious attitudes in a good patient compliance is emphasized. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1991000200005
更新日期:1991-06-01 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: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::The Argentinian author Silvina Ocampo (1903-1993) left us a vast body of works which are considered outstanding in many ways. In 1960, she published a short story, entitled "El médico encantador" (The Charming Physician), in the renowned literary magazine Sur. The central character of this piece is a family doctor nam...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/0004-282X20170129
更新日期:2017-11-01 00:00:00
abstract::The clinical aspects of the meningiomas are well described. However, there is an important number of reports on a variety of other lesions simulating meningioma, including the prostate cancer. The authors describe one additional patient with prostate cancer who at presentation had clinical and radiographic signs sugge...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1993000200018
更新日期:1993-06-01 00:00:00
abstract::We attempt to correlate the patient's disability and serum enzymes (creatinekinase, lactic dehydrogenase, aldolase, glutamic oxalacetic and glutamic piruvic transaminase) in several neuromuscular disorders using the Vignos and Archibald scale (V&A). In 806 cases we studied, serum enzyme levels and the V&A disability u...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1995000100010
更新日期:1995-03-01 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
abstract::Cerebellar glioblastoma multiforme (GBM) is a rare tumor. This is the third case published in Brazilian literature and, the last one has been described more than 15 years ago. The aggressive behavior of GBM prompts for fast treatment, which can be hampered by the fact that the diagnosis of GBM requires a high degree o...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2006000100028
更新日期:2006-03-01 00:00:00
abstract::Prevalence rates of multiple sclerosis (MS) suggest an interrelationship between genetic and environmental factors, ranging worldwide.Objectives Clinical and epidemiological characterization of MS patients in João Pessoa, Paraíba city.Methods Study involving patients treated in five services in the city.Results It inc...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150111
更新日期:2015-09-01 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::Of the many risk factors suggested for sudden unexpected death in epilepsy (SUDEP), higher frequency of seizures is a very consistent issue. Following this reasoning, it has been established that hemodialysis-associated seizure is a complication of dialysis procedure. Based on these facts, this study investigated a po...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000200007
更新日期:2009-06-01 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::The many kinds of complication that have been observed following operations of basilar impression and/or malformation of Arnold-Chiari are analysed. Two surgical techniques were adopted in the treatment of the patients. In the first 64 cases, the operation consisted in the craniectomy of the posterior fossa and high c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1981-09-01 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::Surgery for space occupying lesions of the brain associated with intractable epilepsy represents a special problem because relief of the epilepsy in as much an operative goal as excision of the space occupying lesion itself. This study concerns 32 patients with space occupying lesions and intractable epilepsy who unde...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1996000300004
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the possible association between celiac disease (CD) and/or gluten sensitivity (GS) and autism spectrum disorder (ASD). METHODS:Occurrences of CD were determined in a group of children and adolescents affected by ASD and, conversely, occurrences of ASD were assessed in a group of biopsy-proven ce...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012000100007
更新日期:2012-01-01 00:00:00
abstract::Neurocysticercosis is a serious public health problem that predominantly affects places with poor sanitary and hygiene conditions. The Piaui State is out of the neurocysticercosis map in Brazil but, as this study illustrates, it is just by lack of epidemiologic data. We demonstrate the presence of this pathology in th...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000200030
更新日期:2006-06-01 00:00:00
abstract::Neuroradiologic, neuropathologic and immunohistochemical features are reported in a young man with a impairment of the central nervous system mimicking an acute diffuse encephalomyelitis. A white male, 17 years old, healthy till 4 months before, when developed a right hemiparesis and after 2 months a bilateral hemipar...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000300023
更新日期:1997-09-01 00:00:00
abstract::The pathogenesis of spontaneous cervical artery dissection remains unknown. Infection-mediated damage of the arterial wall may be an important triggering mechanism. We describe a 21 year-old man with respiratory infection (bronchial pneumonia) which was diagnosed and treated with antibiotic few days prior to the right...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000300029
更新日期:2005-06-01 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:UNLABELLED:The anatomical characterization of the orbitofrontal cortex in human is limited in literature instead of many functional and clinical studies involving it. OBJECTIVE:Anatomically define the orbitofrontal region aiming to possible neurosurgical treatments and unify the scientific nomenclature as well. METHO...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150048
更新日期:2015-05-01 00:00:00
abstract::Cysticercosis is one of the most common parasitic diseases of the nervous system in humans, and constitutes a major public health problem for most of the developing world. The clinical manifestations of neurocysticercosis (NCC) largely depend on the the host immune response against the parasite. NCC diagnosis is based...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/0004-282X20130156
更新日期:2013-09-01 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::The objective of this study was to analyze different immunoglobulins classes (IgG, IgM, IgE and IgA) against Cysticercus cellulosae in the cerebrospinal fluid (CSF), through enzyme linked immunosorbent assay (ELISA), correlating them to clinical and tomographic profiles in patients with neurocysticercosis (NCC). Eight...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000300012
更新日期:2002-06-01 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::We studied the clinical aspects of 100 consecutive premature newborns with and without intraventricular and periventricular hemorrhage (IPVH). The diagnosis of IPVH was obtained by ultrasonic scans of the skull during the first week of life and at the age of one month. Forty eight percent of newborns with IPVH had abn...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000300004
更新日期:1999-06-01 00:00:00
abstract::The myelin sheaths that surround axons in the CNS are made and maintained by oligodendrocytes. These glial cells can form variable numbers of myelin segments (internodules): from 1 to 200 so that when one oligodendrocyte is destroyed with preservation of the axon, many internodules can be lost, constituting a demyelin...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1988000300010
更新日期:1988-09-01 00:00:00