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

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Martin Bauer, Knut Brockmann, Stine Christ, Andrea Dell'Orco, Christian Furth, Christiane Grolik, Marie-Thérèse Henke, Angela L Hewitt, Sabine Jung-Klawitter, Angela M Kaindl, Heiko Krude, Catharina Lange, Stephan Menz, Thomas Opladen, Roser Pons, Alessandro Prigione, Christina Reinauer, Markus Schuelke, Anna Tietze, Monika Wahle, Nina-Maria Wilpert, Annika Zink

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Movement disorders : official journal of the Movement Disorder Society , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 712857

BACKGROUND: Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X-linked recessive Allan-Herndon-Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve patient-oriented therapeutic goals. OBJECTIVES: Our aim was to define the type of movement disorder in AHDS in an observational cohort study and to investigate the causative role of the dopaminergic system. METHODS: We present longitudinal clinical data from the DEEPTYPE registry of 11 patients with video documentation, standardized phenotyping, cerebrospinal fluid (CSF) analysis, neuroimaging data, and the treatment response to levodopa/carbidopa supplementation. RESULTS: Children presented with signs of childhood parkinsonism, including hypokinesia, hypomimia, inability to sit or stand, rigidity, dystonia, and autonomic dysfunction. CSF homovanillic acid concentrations were decreased (n = 12), suggesting an isolated dopamine pathway impairment. Seven out of 8 patients responded favorably to l-dopa/carbidopa supplementation and we did not observe any adverse drug reactions. CONCLUSIONS: AHDS is associated with childhood parkinsonism, which is linked with biochemical abnormalities of dopamine metabolism. It can be treated with l-dopa/carbidopa supplementation. However, further research is needed to elucidate the exact effect of MCT8 deficiency on dopamine metabolism. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH