Spinal muscular atrophy is also a disorder of spermatogenesis
The fertility disorders were correlated with SMA severity and were particularly evident in SMA2 patients. In the latter, sperm concentration positively correlated with MFM. This study is the first one to link fertility disorders with spermogram abnormalities in SMA males. Understanding spermatogenesis in SMA is crucial, especially with new therapies such as risdiplam. Consequently, conducting systematic spermogram studies prior to SMA treatment is recommended.
Authors
- Arnaud Reignier (ORCID: https://orcid.org/0000-0002-9290-7579)
- Jean‐Baptiste Davion (ORCID: https://orcid.org/0000-0001-6743-4426)
- Marco Spinazzi (ORCID: https://orcid.org/0000-0003-0048-9558)
- Olivier Binois
- Pascal Laforêt (ORCID: https://orcid.org/0000-0002-4489-4718)
- Guilhem Solé (ORCID: https://orcid.org/0000-0001-9599-6573)
- Louise Debergé
- Anne Laure Bedat-Millet
- Maud Michaud
- Antoine Pégat (ORCID: https://orcid.org/0000-0003-1563-9432)
- Emmanuelle Salort‐Campana (ORCID: https://orcid.org/0000-0002-1846-3017)
- Yann Péréon (ORCID: https://orcid.org/0000-0002-0090-3571)
- Céline Tard (ORCID: https://orcid.org/0000-0002-6654-8090)
- Guillaume Nicolas (ORCID: https://orcid.org/0000-0003-0396-5708)
- Émilie Laheranne
- Claire Lefeuvre (ORCID: https://orcid.org/0000-0001-6433-4980)
- Carole Vuillerot (ORCID: https://orcid.org/0000-0003-4995-0202)
- Armelle Magot (ORCID: https://orcid.org/0000-0002-7589-1421)
- Aleksandra Nadaj‐Pakleza
- Martial Mallaret (ORCID: https://orcid.org/0000-0002-7958-2669)
- Karima Ghorab
- Morgane Péré (ORCID: https://orcid.org/0000-0002-6432-1255)
- J.-B. Noury
- Lucie Guyant
- Chahla Omar
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Hôpital Femme Mère Enfant (FR)
- Hôpital Charles-Nicolle (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Pierre Wertheimer (FR)
- Centre Hospitalier Universitaire d'Angers (FR)
- Centre Hospitalier Universitaire de Limoges (FR)
- Institut NeuroMyoGène (FR)
- Centre d'Investigation Clinique de Nantes (FR)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Hôpital Raymond-Poincaré (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Hôpital Antoine-Béclère (FR)
- Grenoble Institute of Neurosciences (FR)
- Centre Hospitalier Universitaire de Rouen (FR)
- Hôpital de la Timone (FR)
- Université Lille Nord de France (FR)
- Université de Rouen Normandie (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1186/s13023-024-03494-2
- Citations
- 3
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.31