Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.
Adult
Brain
/ diagnostic imaging
Child
Child, Preschool
Chorea
/ complications
Cohort Studies
Dopamine Agents
/ therapeutic use
Family Health
Female
Humans
Levodopa
/ therapeutic use
Magnetic Resonance Imaging
Male
Mutation
/ genetics
Pituitary Gland
/ diagnostic imaging
Restless Legs Syndrome
/ diagnostic imaging
Thyroid Nuclear Factor 1
/ genetics
ADCY5
Benign hereditary chorea
Levodopa
NKX2-1-related chorea
Restless legs syndrome
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
14
03
2018
revised:
13
07
2018
accepted:
01
10
2018
pubmed:
26
10
2018
medline:
6
6
2019
entrez:
25
10
2018
Statut:
ppublish
Résumé
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. 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. 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. Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.
Identifiants
pubmed: 30352709
pii: S0387-7604(18)30495-9
doi: 10.1016/j.braindev.2018.10.001
pii:
doi:
Substances chimiques
Dopamine Agents
0
NKX2-1 protein, human
0
Thyroid Nuclear Factor 1
0
Levodopa
46627O600J
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
250-256Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.