From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic <scp><i>SPAST</i></scp> variants
Biallelic variants of SPAST may explain cases of hereditary spastic paraplegia with autosomal recessive inheritance. Furthermore, some biallelic variants may also cause psychomotor regression with an infantile neurodegenerative disorder, associated with a tetrapyramidal syndrome, a new phenotype associated with the SPAST gene.
Authors
- Guy Armand Rouleau (ORCID: https://orcid.org/0000-0001-8403-1418)
- Claire Ewenczyk (ORCID: https://orcid.org/0000-0002-4864-6287)
- Mehrdad A. Estiar (ORCID: https://orcid.org/0000-0002-1579-6342)
- Chloé Angelini (ORCID: https://orcid.org/0000-0002-5825-5319)
- Claire Bar (ORCID: https://orcid.org/0000-0003-1489-0211)
- Dhanya Lakshmi Narayanan (ORCID: https://orcid.org/0000-0002-1627-3252)
- Wahiba Amer El Khedoud (ORCID: https://orcid.org/0000-0001-7886-3701)
- Purvi Majethia (ORCID: https://orcid.org/0000-0002-2364-4111)
- Cyril Goizet (ORCID: https://orcid.org/0000-0002-1913-889X)
- Claire Lefeuvre (ORCID: https://orcid.org/0000-0001-6433-4980)
- Christine Barnérias (ORCID: https://orcid.org/0000-0003-3633-7273)
- Oksana Suchowersky (ORCID: https://orcid.org/0000-0001-6783-4956)
- Didier Lacombe (ORCID: https://orcid.org/0000-0002-8956-2207)
- Ziv Gan‐Or (ORCID: https://orcid.org/0000-0003-0332-234X)
- Anju Shukla (ORCID: https://orcid.org/0000-0002-8347-429X)
- Manon Degoutin
- Giovanni Stevanin
- Marine Guillaud‐Bataille (ORCID: https://orcid.org/0000-0003-4147-9102)
- Mouna Messaoud‐Khelifi (ORCID: https://orcid.org/0009-0000-3473-3446)
- Razika Boulariah‐Hadjou
Institutions
- Broad Institute (US)
- Hôpital Necker-Enfants Malades (FR)
- Montreal Neurological Institute and Hospital (CA)
- Centre National de la Recherche Scientifique (FR)
- Université de Bordeaux (FR)
- University of Alberta (CA)
- Inserm (FR)
- University of Sciences and Technology Houari Boumediene (DZ)
- École Pratique des Hautes Études (FR)
- Manipal Academy of Higher Education (IN)
- University of Algiers Benyoucef Benkhedda (DZ)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Neurosciences Cognitives et Intégratives d’Aquitaine (FR)
- Hôpital Raymond-Poincaré (FR)
- Institut du Cerveau (FR)
- Maladies Rares: Génétique et Métabolisme (FR)
- McGill University (CA)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1111/ene.70025
- Citations
- 6
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Institutes of Health
- Canadian Institutes of Health Research