A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation
Mov Disord
.
2024 Jan;39(1):215-217.
doi: 10.1002/mds.29616.
Epub 2023 Oct 3.
Authors
Jordi Pijuan
1
2
,
Irina F Sevrioukova
3
,
Óscar García-Campos
4
,
Mar Hernaez
1
,
Laura Gort
5
,
Marta Gómez-Chiari
6
,
Cristina Jou
7
,
Santiago Candela-Cantó
8
,
Jordi Rumiá
8
9
,
Rafael Artuch
2
10
,
Francesc Palau
1
2
11
12
13
,
Janet Hoenicka
1
2
,
Juan Dario Ortigoza-Escobar
2
14
15
Affiliations
1
Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
2
Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
3
Department of Molecular Biology and Biochemistry, University of California, Irvine, California, USA.
4
Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain.
5
Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
6
Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
7
Pathology Department, Institut de Recerca Sant Joan de Déu, CIBERER, Barcelona, Spain.
8
Department of Neurosurgery, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
9
Department of Neurosurgery, Hospital Clinic de Barcelona, Barcelona, Spain.
10
Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
11
Department of Genetic and Molecular Medicine, IPER, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
12
Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.
13
European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, (ERN-ITHACA), Barcelona, Spain.
14
Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
15
European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.
PMID:
37787095
DOI:
10.1002/mds.29616
No abstract available
Publication types
Letter
MeSH terms
Apoptosis Inducing Factor / genetics
Apoptosis Inducing Factor / metabolism
Deep Brain Stimulation*
Humans
Mutation
Phenotype
Substances
AIFM1 protein, human
Apoptosis Inducing Factor
Grants and funding
ACCI 2019-16/CIBERER
Fundación Isabel Gemio and the Torró Solidari-RAC1 i Torrons Vicens
SLT002/16/00174/Generalitat de Catalunya
2015 FEDER/S21/Generalitat de Catalunya
2021/SGR-01610/Generalitat de Catalunya