Allan-Herndon-Dudley syndrome

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Allan-Herndon-Dudley syndrome

A severe form (OMIM:30052)3 of X-linked psychomotor retardation combined with thyroid hormone defects due to imparied hormone synthesis, transport and action. Affected male patients have abnormal concentrations of circulating iodothyronines and severe neurologic deficits, including developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus and impaired gaze and hearing. Heterozygous females have a milder thyroid phenotype and no neurologic defects.  

Molecular pathology
Caused by defects of SLC16A2, which encodes a widely expressed integral membrane protein that facilitates cellular importatation of thyroid hormones and plays a key role in CNS development.
References in periodicals archive ?
And the Panels in both the above cases had no other indication of the applicant's choice to challenge the first instance decision than the application/appeal itself, filed well within the CAS AHD period of jurisdiction.
Like in the previous edition of CAS AHD in Athens, disputes following an adverse analytical finding were not the majority (43).
b) Furthermore, in two awards rendered by the CAS AHD in Turin the Court denied to enter into examining and deciding purely medical issues.
While the main sources of disputes for regular CAS are now doping and football, the CAS AHD usually deals with doping and selection cases.
Although two prima facie similar selection cases (OG 06/002 and OG 06/008) did not have the same result (Ms Schuler failed in her appeal while Ms Dal Balcon succeeded) the CAS AHD in Turin maintained a consistent approach to this type of disputes.
The experience of three Summer Olympics and another three Winter Olympics of the CAS AHD has rewarded the Court with priceless know-how.
For a detailed comment on the structure of the CAS AHD and especially on the "closed" list of arbitrators selected by the ICAS Board, see Rigozzi A., L'arbitrage international en matiere de sport, Helbing & Lichtenhahn, Basle 2005, pp.301-308.
In view of the medal ceremony scheduled to take place later that afternoon, it was not possible for the President of the CAS AHD to constitute a Panel immediately.
(20) In French; only the third award in French out of a total number of 51 awards rendered by six editions of CAS AHD for the Olympic Games.
(21) The question whether Mr Angel Perez, a former Cuban citizen, could participate for the United States in the kayak competition of the Sydney 2000 Olympic Games gave rise to three different arbitrations and respective awards delivered by the CAS AHD. See CAS OG 2000/001, 2000/005 and 2000/009 in: Digest of CAS Awards II, pp.595, 625 and 651.
(25) Although the CAS AHD resolves disputes through arbitration, where the parties are in principio the ones to determine the course of their case, two main arguments may be raised concerning settlements before the CAS AHD: a) the CAS code does not provide for conciliation in the appeals arbitration procedure, but only in the "Special provisions applicable to the ordinary arbitration procedure" (Art.