Abstract：
INTRODUCTION:Rett's syndrome (RS) is a disorder of neurological development which is the second commonest cause of mental retardation in girls. It is normally caused by de novo mutations of a gene on the X chromosome. This gene encodes for the protein joining the methyl CpG (MECP2). Mutations of this gene have been found in approximately 80% of the cases confirmed as having the classical form of RS. Mutations of the gene MECP2 were also found in about a third of the nonclassical cases of RS and in other conditions: women with mild or severe mental retardation, children with autism, even children with neonatal encephalopathy or with a clinical condition similar to RS. DEVELOPMENT:Studies correlating the genotypes and phenotypes in classical RS suggest that the pattern of inactivation of the X chromosome is more important in determining the severity of the condition than the type or site of the mutation. However, when we consider all the phenotypes associated with mutations of MECP2, it is seen that the type of mutation correlates to a certain degree with the clinical onset and severity of the disorder. CONCLUSIONS:Recent advances in the genetics of RS therefore have specific application in the clinical field. They give further markers for diagnosis and possibly indicate the prognosis, as well as being useful in genetic counselling for the families of patients with RS.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Temudo T,Maciel Psubject
Has Abstractpub_date
2002-02-01 00:00:00pages
S54-8eissn
0210-0010issn
1576-6578pii
rn2002031journal_volume
34 Suppl 1pub_type
杂志文章abstract：INTRODUCTION:Although the conventional risk factors of ischemic stroke are numerous and the physiopathological mechanisms are well known, we believe that there may be other less common factors that have received less attention by researchers but are nonetheless just as important. AIMS:The aim of this study was to dete...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-05-16 00:00:00
abstract：INTRODUCTION:Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. DEVELOPMENT:The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of c...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-04-10 00:00:00
abstract：INTRODUCTION:Adrenoleukodystrophy is a hereditary recessive sex-linked disorder with very variable phenotype expression, including classical infantil ALD, adrenomyeloneuropathy (AMN) in adults and sex-linked Addison's disease. Clinical observations. Three affected patients are presented. The first showed signs of myelo...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:Parkinson's disease is a neurodegenerative disorder associated with aging characterized by a motor extrapiramidal alteration secondary to the progressive death of dopaminergic neurons of the substantia nigra pars compacta. The cause of this neuronal loss remains unknown but post mortem studies on brains of parkinsonia...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-03-16 00:00:00
abstract：INTRODUCTION:A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfecti...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-12-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-05-16 00:00:00
abstract：:An accurate diagnosis of a mentally retarded patient is a crucial step to design a successful treatment. The effects of genetic and environmental influences have to be clarified in the etiological approach. For that reason, we have to record a more appropriate family information, detailed prenatal, birth and postnatal...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-10-01 00:00:00
abstract：INTRODUCTION:Restless legs syndrome (RLS) is a usual neurologic disorder, often undiagnosed and treatable, usually associated with sleep disturbance. Our goal was to study prevalence of RLS in our practice. PATIENTS AND METHODS:Descriptive, cross-sectional study, in a Primary care center. 283 patients 50 years old or ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2007-06-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-04-01 00:00:00
abstract：OBJECTIVE:To present a new formulation of human death based on neurological considerations. DEVELOPMENT:One of the reasons there is still controversy over a new formulation of human death which is acceptable to society, is that many authors do not suitably integrate three fundamental aspects which should be included i...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-06-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2008-04-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-12-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-02-25 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7102.2019207
更新日期：2020-07-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-10-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-08-16 00:00:00
abstract：TITLE:Parálisis súbita de la supraversión de la mirada en una niña de 9 años. : ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.7110.2020275
更新日期：2020-11-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1995-03-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1997-10-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2013-09-06 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2010-04-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-02-29 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2010-03-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-05-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-12-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2011-10-16 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-04-01 00:00:00
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journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-07-01 00:00:00
