A Iodice1, M Carecchio2, G Zorzi3, B Garavaglia4, C Spagnoli5, G G Salerno5, D Frattini5, N E Mencacci6, F Invernizzi4, L Veneziano7, E Mantuano7, M Angriman8, C Fusco5. 1. Child Neurology and Psychiatry Unit, Santa Maria Nuova Hospital IRCCS, Reggio Emilia, Italy. Electronic address: alle.iodice@gmail.com. 2. Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via L. Temolo 4, 20126 Milan, Italy; Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy. 3. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy. 4. Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via L. Temolo 4, 20126 Milan, Italy. 5. Child Neurology and Psychiatry Unit, Santa Maria Nuova Hospital IRCCS, Reggio Emilia, Italy. 6. Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, 60611 IL, USA. 7. Institute of Translational Pharmacology, National Council of Research, Rome, Italy. 8. Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Hospital of Bolzano, Italy.
Abstract
BACKGROUND: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. In all subjects sleep and awake EEG, brain MRI with study of pituitary gland, chest X-rays, endocrinological investigations were performed. Movement disorders, pattern of sleep and related disorders were investigated using structured clinical evaluation and several validated questionnaires. RESULTS: In patients carrying NKX2-1 mutations, chorea was mainly distributed in the upper limbs and tended to improve with age. All patients presented clinical or subclinical hypothyroidism and delayed motor milestones. Three subjects had symptoms consistent with Restless Legs Syndrome (RLS) that improved with Levodopa. CONCLUSIONS: Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.
BACKGROUND: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. In all subjects sleep and awake EEG, brain MRI with study of pituitary gland, chest X-rays, endocrinological investigations were performed. Movement disorders, pattern of sleep and related disorders were investigated using structured clinical evaluation and several validated questionnaires. RESULTS: In patients carrying NKX2-1 mutations, chorea was mainly distributed in the upper limbs and tended to improve with age. All patients presented clinical or subclinical hypothyroidism and delayed motor milestones. Three subjects had symptoms consistent with Restless Legs Syndrome (RLS) that improved with Levodopa. CONCLUSIONS:Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.
Authors: Lian Guan; Xu Zhao; Lin Tang; Jing Chen; Juanjuan Zhao; Mengmeng Guo; Chao Chen; Ya Zhou; Lin Xu Journal: Biomed Res Int Date: 2021-09-28 Impact factor: 3.411