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Comment
. 2023 May;38(5):910-911.
doi: 10.1002/mds.29380.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Joana Damásio  1   2   3 , Clara Barbot  2 , Rui Felgueiras  1 , Ana Filipa Brandão  3 , José Barros  1   4 , Jorge Oliveira  2   3 , Jorge Sequeiros  2   3   4
Affiliations
Comment

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Joana Damásio et al. Mov Disord. 2023 May.
No abstract available

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References

    1. Mo A, Saffari A, Kellner M, et al. Early-onset and severe complex hereditary spastic paraplegia caused by De novo variants in SPAST. Mov Disord 2022;37(12):2440-2446.
    1. Bertini E, Zanni G, Boltshauser E. Nonprogressive congenital ataxias. Handb Clin Neurol 2018;155:91-103.
    1. Schieving JH, de Bot ST, van de Pol LA, et al. De novo SPAST mutations may cause a complex SPG4 phenotype. Brain 2019;142(7):e31.
    1. Nan H, Shiraku H, Mizuno T, Takiyama Y. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature. BMC Neurol 2021;21(1):439.

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