Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.
Exp Clin Endocrinol Diabetes
; 128(6-07): 414-422, 2020 Jun.
Article
en En
| MEDLINE
| ID: mdl-32242326
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tractos Piramidales
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Triyodotironina
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Ganglios Basales
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Atrofia Muscular
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Cerebelo
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Transportadores de Ácidos Monocarboxílicos
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Discapacidad Intelectual Ligada al Cromosoma X
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Hipotonía Muscular
Límite:
Humans
Idioma:
En
Revista:
Exp Clin Endocrinol Diabetes
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Alemania