Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
Marc-Olivier DeguiseGiovanni BaranelloChiara MastellaAriane BeauvaisJean MichaudAlessandro LeoneRamona De AmicisAlberto BattezzatiChristopher DunhamKathryn SelbyJodi Warman ChardonHugh J McMillanYu-Ting HuangNatalie L CourtneyAlannah J MoleSabrina KubinskiPeter ClausLyndsay M MurrayMelissa BowermanThomas H GillingwaterSimona BertoliSimon H ParsonRashmi KotharyPublished in: Annals of clinical and translational neurology (2019)
This work highlights metabolic abnormalities as an important feature of SMA, suggesting implementation of nutritional and screening guidelines in patients, as such defects are likely to increase metabolic distress and cardiovascular risk. This study emphasizes the need for a systemic therapeutic approach to ensure maximal benefits for all SMA patients throughout their life.