TY - JOUR
T1 - Restless Legs Syndrome in NKX2-1-related chorea
T2 - An expansion of the disease spectrum
AU - Iodice, A.
AU - Carecchio, M.
AU - Zorzi, G.
AU - Garavaglia, B.
AU - Spagnoli, C.
AU - Salerno, G. G.
AU - Frattini, D.
AU - Mencacci, N. E.
AU - Invernizzi, F.
AU - Veneziano, L.
AU - Mantuano, E.
AU - Angriman, M.
AU - Fusco, C.
N1 - Publisher Copyright:
© 2018 The Japanese Society of Child Neurology
PY - 2019/3
Y1 - 2019/3
N2 - 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.
AB - 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.
KW - ADCY5
KW - Benign hereditary chorea
KW - Levodopa
KW - NKX2-1-related chorea
KW - Restless legs syndrome
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U2 - 10.1016/j.braindev.2018.10.001
DO - 10.1016/j.braindev.2018.10.001
M3 - Article
C2 - 30352709
AN - SCOPUS:85055095313
SN - 0387-7604
VL - 41
SP - 250
EP - 256
JO - Brain and Development
JF - Brain and Development
IS - 3
ER -