Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from neurodevelopmental delay, as well as extrapyramidal (dystonia, chorea, athetosis), pyramidal (spasticity), and cerebellar symptoms (ataxia). This suggests an affection of the pyramidal tracts, basal ganglia, and cerebellum, most likely already during fetal brain development. The function of other brain areas relevant for mood, behavior, and vigilance seems to be intact. An optimal treatment strategy should thus aim to deliver T3 to these relevant structures at the correct time points during development. A potential therapeutic strategy meeting these needs might be the delivery of T3 via a "Trojan horse mechanism" by which T3 is delivered into target cells by a thyroid hormone transporter independent T3 internalization.
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PMID:Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. 3224 26

Cerebral palsy (CP) football is a team para-sport practiced by para-athletes with eligible impairments of hypertonia, athetosis, and ataxia. This study aimed: (1) to describe the anthropometrical and body composition profiles of international CP para-footballers with different CP profiles (i.e., spastic diplegia, athetosis/ataxia, spastic hemiplegia, and minimum impairment); (2) to analyze the differences between both affected/nondominant and nonaffected/dominant sides; and (3) to compare the sample of international-level CP para-footballers (n = 141) with a sample of highly trained able-bodied footballers (n = 39). Anthropometric measures included four breadths, nine girths, and six skinfolds, while body composition was measured through fat mass (including Carter's, Faulkner's, and Withers' equations), muscle mass (Lee's equation), and bone mass (Rocha's and Martin's equations). This study found differences between the able-bodied footballers and the following impairment profiles: spastic diplegia (skinfolds); ataxia/athetosis (corrected calf of the nondominant side, and calf skinfolds for both sides); and spastic hemiplegia (all measurements excepting femur breadth, and thigh and ankle girths). No differences were found between para-athletes with minimum impairment and the able-bodied footballers. This study demonstrates that football players with or without physical impairments of hypertonia athetosis or ataxia may be considered homogeneous in shape when dominant size is compared. Besides, the study provides reference scores on anthropometric measures and body composition of international-level CP para-footballers that can help sports coaches and physical trainers to monitor physical fitness of their para-athletes.
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PMID:Anthropometrical Features of Para-Footballers According to Their Cerebral Palsy Profiles and Compared to Controls. 3329 50


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