Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Feb;28(2):602-608.
doi: 10.1111/ene.14567. Epub 2020 Oct 31.

Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen

V A Sansone  1 , G Coratti  2   3 , M C Pera  2   3 , M Pane  2   3 , S Messina  4   5 , F Salmin  1 , E Albamonte  1 , R De Sanctis  3 , M Sframeli  5 , V Di Bella  5 , S Morando  6 , A d'Amico  7 , A L Frongia  2   3 , L Antonaci  2   3 , A Pirola  1 , M Pedemonte  6 , E Bertini  7 , C Bruno  6 , E Mercuri  2   3 ; Italian ISMAC group
Collaborators, Affiliations
Free article

Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen

V A Sansone et al. Eur J Neurol. 2021 Feb.
Free article

Abstract

Background and purpose: Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry.

Methods: We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type.

Results: The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05).

Conclusions: Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.

Keywords: adult; neuromuscular disorders; nusinersen; spinal muscular atrophy.

PubMed Disclaimer

References

    1. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-165.
    1. D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011; 6: 71.
    1. Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 2018; 378: 625-635.
    1. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017; 377: 1723-1732.
    1. Stolte B, Totzeck A, Kizina K, et al. Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy. Ther Adv Neurol Disord. 2018; 11: 1756286418803246.

Publication types

MeSH terms