A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis-Reference-Cited by-同舟云学术

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis

Published:2022-01-23 Issue:4 Volume:43 Page:2849-2852
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Lopergolo Diego,Berti Gianna,Mari Francesca,Bertini Enrico,Rufa Alessandra,Battisti Carla,Sicurelli Francesco,Renieri Alessandra,Federico Antonio,Sandhoff Konrad,Malandrini Alessandro^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-021-05841-8.pdf

Reference12 articles.

1. Stevanin G, Azzedine H, Denora P et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131(3):772–784. https://doi.org/10.1093/brain/awm293

2. Pérez-Brangulí F, Mishra HK, Prots I et al (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet 23(18):4859. https://doi.org/10.1093/HMG/DDU200

3. Renvoisé B, Chang J, Singh R et al (2014) Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol 1(6):379. https://doi.org/10.1002/ACN3.64

4. Branchu J, Boutry M, Sourd L et al (2017) Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis 102:21. https://doi.org/10.1016/J.NBD.2017.02.007

5. Denora PS, Smets K, Zolfanelli F et al (2016) Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 139(6):1723–1734. https://doi.org/10.1093/brain/aww061