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29-11-2022 | Amyotrophic Lateral Sclerosis | Letter to the Editor

Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis

Authors: Cláudia Santos Silva, Miguel Oliveira Santos, João Madureira, Sofia Reimão, Mamede de Carvalho

Excerpt

Dear Sirs, …

Stevanin G. Spastic Paraplegia 11 Seattle (WA): University of Washington Available from: https://www.ncbi.nlm.nih.gov/books/NBK1210/?report=classic

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Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A et al (2017) Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis 102:21–37. https://doi.org/10.1016/j.nbd.2017.02.007CrossRefPubMedPubMedCentral

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T et al (2016) Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 139(Pt6):1723–34. https://doi.org/10.1093/brain/aww061CrossRefPubMedPubMedCentral

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Title: Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis
Authors: Cláudia Santos Silva
Miguel Oliveira Santos
João Madureira
Sofia Reimão
Mamede de Carvalho
Publication date: 29-11-2022
Publisher: Springer International Publishing
Keyword: Amyotrophic Lateral Sclerosis
Published in: Acta Neurologica Belgica / Issue 4/2023
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-022-02148-z