Observational studyMovement disorders : official journal of the Movement Disorder Society2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.
Observational study in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
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2 · The registry
The trial behind it
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5 · Who and what money
Authors and funding
22 authors.
Nina-Maria WilpertDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0001-9453-8335
Angela L HewittDivision of Movement Disorders, Department of Neurology, University of Rochester Medical Center, Motor Physiology and Neuromodulation Program, Rochester, New York, USA.ORCID https://orcid.org/0000-0001-6565-4011
Roser PonsFirst Department of Pediatrics, National and Kapodistrian University of Athens, Hospital Agia Sofía, Pediatric Neurology Unit, Athens, Greece.ORCID https://orcid.org/0000-0001-6749-1906
Marie-Thérèse HenkeDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0001-6572-1667
Andrea Dell'OrcoNeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0002-3964-8360
Martin BauerNeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0002-3120-7405
Christiane GrolikDepartment of Pediatrics, Pediatric Neurology, Kinderkrankenhaus Amsterdamer Strasse, Kliniken der Stadt Köln, Cologne, Germany.
Stephan MenzCenter for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Monika WahleDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Annika ZinkDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.ORCID https://orcid.org/0000-0002-8489-6339
Alessandro PrigioneDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.ORCID https://orcid.org/0000-0001-9457-1952
Christina ReinauerDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.ORCID https://orcid.org/0000-0002-3272-8691
Catharina LangeDepartment of Nuclear Medicine, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0002-6745-8441
Christian FurthDepartment of Nuclear Medicine, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0001-7302-7886
Knut BrockmannDepartment of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
Sabine Jung-KlawitterDepartment I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.ORCID https://orcid.org/0000-0001-8851-672X
Stine ChristDepartment I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.
Angela M KaindlDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0001-9454-206X
Anna TietzeInstitute of Neuroradiology, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0002-2601-9055
Heiko KrudeInstitute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0002-1169-0348
Thomas OpladenDepartment I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.ORCID https://orcid.org/0000-0003-4349-7662
Markus SchuelkeDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID https://orcid.org/0000-0003-2824-3891
Funding
Alliance4RareBerliner Sparkassenstiftung MedizinBerlin Institute of HealthBIH Charité Junior Clinician Scientist Program for RareBundesministerium für Bildung und ForschungGerman Center for Child and Adolescent Health (DZK)Deutsche Forschungsgemeinschaft EXC-2049-390688087Deutsche Forschungsgemeinschaft FOR2841
6 · The paper itself
Abstract
backgroundPatients 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.
objectivesOur 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.
methodsWe 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.
resultsChildren 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.
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment. · full record | OpenQuestion