Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report
Mov Disord
.
2024 Apr;39(4):747-749.
doi: 10.1002/mds.29732.
Epub 2024 Feb 21.
Authors
Federica Rachele Danti
1
,
Ignacio Juan Keller Sarmiento
2
,
Patrick B Moloney
3
,
Isabel Colangelo
4
,
Federica Graziola
1
,
Barbara Garavaglia
4
,
Giovanna Zorzi
1
,
Niccolò E Mencacci
2
,
Steven J Lubbe
2
Affiliations
1
Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
2
Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
3
Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, University College London, London, UK.
4
Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
PMID:
38380600
DOI:
10.1002/mds.29732
No abstract available
Keywords:
NAA15 gene; dystonia; pediatric dystonia.
Publication types
Case Reports
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Adolescent
Dystonic Disorders* / genetics
Female
Humans
Lower Extremity / physiopathology
Grants and funding
K08 NS131581/NS/NINDS NIH HHS/United States
Ministero dell'Istruzione e del Merito (RCC)