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  1. Pubblicazioni

Acute Onset, Relapsing–Remitting Choreiform Movement Disorder in A Girl with 22q11.2 Deletion Syndrome

Articolo
Data di Pubblicazione:
2024
Abstract:
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, presenting after a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestations of the syndrome. The literature reports that early Parkinson's disease and dystonia, in particular, are associated with the syndrome. We here describe the first known case of choreiform movement disorder in a girl suffering from 22q11.2DS, responsive to tetrabenazine after relapsing–remitting course.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
22q11.2 deletion syndrome - movement disorder - chorea
Elenco autori:
Saottini, Silvia; Brunetti , Sara; Molinaro, Anna; Accorsi, Patrizia; Soresina, Annarosa; Frigerio, Michele; Fazzi, ELISA MARIA
Link alla scheda completa:
https://iris.unibs.it/handle/11379/617776
Pubblicato in:
JOURNAL OF PEDIATRIC NEUROLOGY
Journal
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