Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies

Exp Clin Endocrinol Diabetes DOI: 10.1055/a-1108-1456Despite 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. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Experimental and Clinical Endocrinology and Diabetes - Category: Endocrinology Authors: Tags: Article Source Type: research

Related Links:

Authors: Katsiki N, Tousoulis D PMID: 32454183 [PubMed - as supplied by publisher]
Source: Hellenic Journal of Cardiology - Category: Cardiology Tags: Hellenic J Cardiol Source Type: research
Publication date: Available online 27 May 2020Source: Diabetes &Metabolic Syndrome: Clinical Research &ReviewsAuthor(s): Souvik Dubey, Payel Biswas, Ritwik Ghosh, Subhankar Chatterjee, Mahua Jana Dubey, Subham Chatterjee, Durjoy Lahiri, Carl J. Lavie
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - Category: Endocrinology Source Type: research
Publication date: Available online 27 May 2020Source: Diabetes &Metabolic Syndrome: Clinical Research &ReviewsAuthor(s): Channabasappa Shivaprasad, Kolla Gautham, Preethika Palani, Soumya Gupta, Kejal Shah
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - Category: Endocrinology Source Type: research
Publication date: June 2020Source: Canadian Journal of Diabetes, Volume 44, Issue 4Author(s): Kelly Buxton, Lisa M. Lix, Anne Champagne, Charity Evans, Yvonne Shevchuk, Gary Teare, Kerry Mansell, David F. Blackburn
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
Publication date: June 2020Source: Canadian Journal of Diabetes, Volume 44, Issue 4Author(s): Himadri Kalita, Ankita Hazarika, Rajlakshmi Devi
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
Publication date: June 2020Source: Canadian Journal of Diabetes, Volume 44, Issue 4Author(s):
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
Publication date: June 2020Source: Canadian Journal of Diabetes, Volume 44, Issue 4Author(s):
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich's ataxia and discuss the pitfalls and risk of misdiagnosis. PMID: 31467149 [PubMed - as supplied by publisher]
Source: Practical Neurology - Category: Neurology Authors: Tags: Pract Neurol Source Type: research
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy. The mother and her youngest daughter died from aspiration pneumonia because of vomiting. The dete...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Conclusions: This is the second published report of non-paraneopalstic rapidly progressive cerebellar ataxia responsive to IVIG. One should include this entity into differential diagnosis of rapidly progressive cerebellar ataxia.Disclosure: Dr. Patel has nothing to disclose. Dr. Itin has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxia and Dystonia Source Type: research
More News: Ataxia | Brain | Cerebellum | Diabetes | Dystonia | Endocrinology | Genetics | Hormones | Neurology | Thyroid