Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions

Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13.

Ana Westenberger¹, Adriana Ruiz-Herrera², Sevcan Bozdoğan³, Atil Bisgin³, Mohammed Almuqbil^{4

5

6}, Amal Alhashem⁷, Talal Alanzi⁷, Antonio Romito⁸, Arndt Rolfs^{8

9

10}, Patricia Dias¹¹, Raquel Gouveia Silva¹¹, Aida M Bertoli-Avella⁸, Peter Bauer⁸, Christian Beetz⁸

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Medical Genetics, Hospital de Especialidades Pediátrico León, Guanajuato, Mexico.
³ Department of Medical Genetics, Faculty of Medicine, AGENTEM, Cukurova University, Adana, Turkey.
⁴ College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard, Riyadh, Saudi Arabia.
⁵ King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
⁶ Ministry of National Guard, King Abdullah International Medical Research Centre (KAMRC), Riyadh, Saudi Arabia.
⁷ Department of Paediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
⁸ CENTOGENE GmbH, Rostock, Germany.
⁹ University of Rostock, Medical Faculty, Rostock, Germany.
¹⁰ Arcensus GmbH, Rostock, Germany.
¹¹ Serviço de Genética Médica, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal.

No abstract available

Keywords: FAR1; cataracts; de novo variants; plasmalogen; seizures; spastic paraparesis.

Publication types