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. 2022 Dec;93(12):1253-1261.
doi: 10.1136/jnnp-2022-329320. Epub 2022 Oct 11.

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

Lorenzo Maggi #  1 , Luca Bello #  2 , Silvia Bonanno  3 , Alessandra Govoni  4   5 , Claudia Caponnetto  6 , Luigia Passamano  7 , Marina Grandis  6   8 , Francesca Trojsi  9 , Federica Cerri  10 , Alice Gardani  11 , Manfredi Ferraro  12 , Giulio Gadaleta  12 , Vittoria Zangaro  2 , Luca Caumo  2 , Mariantonietta Maioli  13 , Raffaella Tanel  14 , Elena Saccani  15 , Megi Meneri  4 , Veria Vacchiano  16   17 , Giulia Ricci  5 , Gianni Sorarù  2 , Eustachio D'Errico  18 , Sara Bortolani  12 , Giovanni Pavesi  19 , Cinzia Gellera  20 , Riccardo Zanin  21 , Stefania Corti  4 , Mauro Silvestrini  22   23 , Luisa Politano  7 , Angelo Schenone  6   8 , Stefano Carlo Previtali  10 , Angela Berardinelli  11 , Mara Turri  24 , Lorenzo Verriello  25 , Michela Coccia  22 , Renato Mantegazza  3 , Rocco Liguori  16   17 , Massimiliano Filosto  26   27 , Gianni Marrosu  13 , Francesco Danilo Tiziano  28   29 , Gabriele Siciliano  5 , Isabella Laura Simone  18 , Tiziana Mongini  12 , Giacomo Comi  4   30 , Elena Pegoraro  2
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Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

Lorenzo Maggi et al. J Neurol Neurosurg Psychiatry. 2022 Dec.

Abstract

Background: Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.

Methods: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).

Results: We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4 SMN2 copies. Median Hammersmith Functional Rating Scale Expanded scores were significantly (p=0.0040) lower in males (16, range 0-64) than in females (40, range 0-62); median revised upper limb module scores were not significantly (p=0.059) different between males (24, 0-38) and females (33, range 0-38), although a trend towards worse performance in males was observed. In SMA3 patients carrying three or four SMN2 copies, an effect of female sex in prolonging ambulation was statistically significant (p=0.034).

Conclusions: Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.

Keywords: MOTOR NEURON DISEASE; NEUROMUSCULAR; SPINAL MUSCULAR ATRO.

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Conflict of interest statement

Competing interests: LM has received honoraria for speaking, advisory boards and compensation for congress participations from Sanofi Genzyme, Roche and Biogen, outside the submitted work. LB participated in advisory boards for PTC Therapeutics, Sarepta Therapeutics, Edgewise Therapeutics, Epirium Bio and has received speaker honoraria from PTC Therapeutics and participated in research sponsored by Santhera Pharmaceuticals. SB has received funds for travel and congress participation from Sanofi Genzyme and Biogen. MG has received honoraria for speaking from Pfizer, Alnylam, Biogen and Sanofi-Aventis and has received financial support for research, not related to the study described in this manuscript, from Sanofi-Aventis. SCP has been Scientific board member for Esperare and Sarepta and PI of clinical trials for Esperare, FibroGen, Wave, Mallinckrodt, Dyne, Adienne. MT has received compensation for congress participations from Roche and Biogen. MC has received honoraria for speaking, advisory boards and compensation for congress participations from Roche and Biogen. RM has received funding for travel, meeting attendance or Advisory Board participation from Alexion, Argenx, Biomarin, Catalyst, SANOFI, Regeneron and UCB. RL reports personal fees from Biogen, Sanofi- Genzyme, Argon Healthcare s.r.l., Amicus Therapeutics s.r.l. and Alfasigma for Advisory Board consultancy and Lecture fees from Dynamicom Education, SIMG Service, Adnkronos salute unipersonale s.r.l. and DOC Congress s.r.l. outside the submitted work. ILS has received compensation for congress and honoraria for speaking from Biogen, Sanofi Genzyme, Roche, and Celgene Bristol Myers Squibb. TM has received honoraria for speaking, advisory boards and compensation for congress participations from Sanofi Genzyme, Roche and Biogen, outside the submitted work. GC has received compensation for participation ad advisory board for Roche, Sarepta and Italfarmaco. EP reports personal fees from Sarepta, grants and non-financial support from Santhera, personal fees and nonfinancial support from PTC Pharmaceuticals, non-financial support from Genzyme, personal fees from Roche, outside the submitted work.

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