title: Genetic disorders of thyroid metabolism and brain development.
abstract: Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic 'brain-thyroid' disorders.
authors.affiliation: Developmental Neurosciences, UCL-Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Manju A
authors.initials: MA
authors.lastname: Kurian
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
mesh_terms: D001921:Brain / Q000254:growth & development* / Q000378:metabolism; D001927:Brain Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D059906:Neuroimaging; D013959:Thyroid Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D013961:Thyroid Gland / Q000378:metabolism*