Genetic disorders of thyroid metabolism and brain development


  • Manju A Kurian,

    Corresponding author
    1. Developmental Neurosciences, UCL-Institute of Child Health, London, UK
    2. Department of Neurology, Great Ormond Street Hospital for Children, London, UK
    • Correspondence to Manju Kurian, Institute of Child Health, Level 1 CMGU Room 111, 30 Guilford Street, London WC1N 1EH, UK. E-mail:

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  • Heinz Jungbluth

    1. Department of Paediatric Neurology, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK
    2. Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, UK
    3. Clinical Neuroscience Division, Institute of Psychiatry, King's College London, London, UK
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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.