Article

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

2024-09-06

Abstract excerpt

<h4>Background: </h4> Patients with mutations in the monocarboxylate transporter 8 (MCT8) suffer from Allan-Herndon-Dudley syndrome (AHDS), characterized by developmental delay and a highly disabling movement disorder. Despite the potential of thyroid hormone derivatives to overcome the transporter defect, current trials did not achieve patient-oriented therapeutic goals. <h4>Objectives:</h4> Since most neurologic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7357ef4d-b0c7-5305-a0f6-cd9f8d1ca73f
DOI: 10.20944/preprints202409.0435.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa TreatmentDOI 10.20944/preprints202409.0435.v1Read

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.Semantic proximity Read

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.Semantic proximity Read

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation.Semantic proximity Read

Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.Semantic proximity Read

Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a reviewSemantic proximity Read

A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatmentSemantic proximity Read

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.Semantic proximity Read

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.Semantic proximity Read

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.Semantic proximity Read

Current advances in the clinical management of Perry syndrome: is there hope for the future?Semantic proximity Read

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.Semantic proximity Read