Abstract:
:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in classical cases of Rett syndrome (RS), namely early onset stagnation at 6 months to 1(1/2) years, the rapid destructive stage at 1-3 years, the pseudo-stationary stage from pre-school to school years, and the late motor deterioration stage at 15-30 or more years. The rapid destructive stage causes profound dementia with loss of speech and hand skills, stereotypic movements, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequently seizures. Most cases are isolated in their families, apart from identical twins. However, linkage studies in rare familial cases suggested a critical region at Xq28. In 1999 American investigators found several mutations in the X-linked gene MECP2 encoding Methyl-CpG-binding protein 2 in a proportion of Rett patients. The protein MeCP2 can bind methylated DNA and when mutated may interfere with transcriptional silencing of other genes and result in abnormal chromatin assembly. Many different mutations of the protein are being studied in humans and in mice. Neuropathological studies have shown decreased brain growth and decreased size of individual neurons, with thinned dendrites in some cortical layers, and abnormalities in substantia nigra, suggestive of deficient synaptogenic development, probably starting before birth. Electrophysiology demonstrates progressively abnormal electroencephalograms (EEG) in the first three stages of the syndrome, with some subsequent improvement and occurrence of pseudoseizures. Neurometabolic factors are discussed in detail, particularly reduced levels of dopamine, serotonin, noradrenaline and choline acetyltransferase (ChAT) in brain, also estimation of nerve growth factors, endorphin, substance P, glutamate and other amino acids and their receptor levels. Autonomic dysfunction is described, particularly reduced vagal and overactive sympathetic activity. Neuro-imaging may be required for further investigation, as shown in the differential diagnosis.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Dunn HGdoi
10.1016/s0387-7604(01)00335-7keywords:
subject
Has Abstractpub_date
2001-12-01 00:00:00pages
S38-43eissn
0387-7604issn
1872-7131pii
S0387760401003357journal_volume
23 Suppl 1pub_type
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.10.005
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.004
更新日期:2016-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.12.005
更新日期:2016-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.04.010
更新日期:2020-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.004
更新日期:2007-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.12.009
更新日期:2012-10-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.005
更新日期:2009-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80012-8
更新日期:1987-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(96)00049-6
更新日期:1996-09-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00003-7
更新日期:2002-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/S0387-7604(03)00161-X
更新日期:2004-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00069-1
更新日期:1997-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00093-1
更新日期:2002-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90003-5
更新日期:1994-11-01 00:00:00
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journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.09.014
更新日期:2021-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.02.013
更新日期:2019-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.12.010
更新日期:2014-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80060-7
更新日期:1985-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.10.006
更新日期:2015-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.01.003
更新日期:2010-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00065-2
更新日期:2003-12-01 00:00:00
abstract::Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00284-4
更新日期:2001-11-01 00:00:00
abstract::We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.013
更新日期:2018-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2012.11.010
更新日期:2013-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.12.004
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.11.007
更新日期:2013-11-01 00:00:00
abstract::Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(96)00059-9
更新日期:1996-11-01 00:00:00