FRAGILE X (X FRA) SYNDROME: THE USEFULNESS OF A CLINICAL SCORE IN PATIENT SELECTIONX Fra is the second cause of mental retardation (M.R.) after Down's Syndrome, representing 50% of the X-linked cases. The X-Fra phenotype has been described and common features are being defined in ...
We report the case of a 7 year old boy with fragile-X syndrome and epilepsy. In this patient, the detection of rolandic epileptiform potentials during slee
作者:Parker, James N. (EDT)/ Parker, Philip M. (EDT) 出版社:Lightning Source Inc 出版年:2002-6 页数:188 定价:$ 28.19 装帧:Pap ISBN:9780597832017 豆瓣评分 目前无人评价 评价: 写笔记 写书评 加入购书单 分享到 + 加入购书单 L 2019年4月23日 想读 ...
The goal of this study was to determine whether a phosphodiesterase-4D (PDE4D) allosteric inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in patients with fragile X syndrome (FXS). This phase 2 trial was a 24-week randomized, placebo-controlled, two-way crossover ...
Fragile X syndrome is a common cause of mental retardation. We report the clinical and pathologic features of a patient with fragile X syndrome who developed amyotrophic lateral sclerosis (ALS) at a relatively young age. Although the occurrence of these 2 diseases could be a mere coincidence, th...
Twelve months after surgery, the patient has not experienced a seizure. He is described by his parents as less perseverative and less restless. We have presented the case of a 24year-old-man with fragile X syndrome who underwent successful left anterior temporal lobectomy for the treatment of ...
These aggregates contain a small protein with a polyglycine stretch on the aminoterminal end named FMRpolyG and, so far, have been isolated and characterized in drosophila and mouse models, in post mortem brain of fragile X-associated tremor/ataxia syndrome patients, in fibroblasts of fragile ...
Here, we report the case of a Japanese FXTAS patient who showed predominant executive cognitive deficits as the main feature of his disease. In contrast, the patient exhibited only very mild symptoms of intention tremor and ataxia, which did not interfere with daily activities. A gene analysis ...
patient stratificationFragile X syndrome (FXS), a neurodevelopmental disorder, is the leading form of heritable cognitive disability and autism, affecting approximately 1 in 5,000 males and 1 in 4,000 to 8,000 females [1]. The classic clinical phenotype of FXS males includes intellectual ...
We report on an 11 1/2‐year‐old boy with neurofibromatosis and the fragile‐X syndrome. Clinical manifestation of neurofibromatosis included multiple cafe‐au‐lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and prec...