Rett Syndrome: Investigation of Nine Patients, including PET Scan
نویسندگان
چکیده
منابع مشابه
Rett syndrome: investigation of nine patients, including PET scan.
BACKGROUND We describe nine females with Rett Syndrome (RS), aged 14 to 26 years. All had had developmental delay before the end of their first year and had subsequently regressed to profound dementia with apraxia, ataxia, irregular respirations and often also seizures. METHODS The Revised Gesell developmental assessment and Alpern-Boll Developmental Profile were used in modified form. Volume...
متن کاملRett Syndrome : Investigation of Nine Patients , including PET Scan
report on the syndrome of brain atrophy in girls first described by Andreas Rett2 in Austria, it has become customary to divide the classical course of the disease into four stages.3,4 After the early onset stagnation stage at ⁄2 to 1⁄2 years, there follows the rapid destructive stage lasting weeks to months at one to three years, with stereotypic and autistic features, loss of speech and hand ...
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Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients. In this study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. A total of 27 sporadic RT...
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Mutations in the MECP2 gene are found in a large proportion of girls with Rett Syndrome. Despite extensive research, the principal role of MeCP2 protein remains elusive. Is MeCP2 a regulator of genes, acting in concert with co-activators and co-repressors, predominantly as an activator of target genes or is it a methyl CpG binding protein acting globally to change the chromatin state and to sup...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2002
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100002213