The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

ABSTRACT:

Background and objective

The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders.

Methods

Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria.

Results

One hundred forty patients with pathogenic variants in 17 different genes (ADCY5, ATP1A3, DDC, DHPR, FOXG1, GCH1, GNAO1, KMT2B, MICU1, NKX2.1, PDE10A, PTPS, SGCE, SLC2A1, SLC6A3, SPR, and TH) were identified. In the majority, hyperkinetic movements were ge

SUBMITTER: Perez-Duenas B 

PROVIDER: S-EPMC9804670 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature