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Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51518
Abstract: While the anticipated rise of disease‐modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic paraplegia type 4 (SPG4), the most prevalent form of hereditary spastic paraplegia. We therefore investigated serum…
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Keywords:
spastic paraplegia;
neurofilament light;
paraplegia;
hereditary spastic ... See more keywords
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Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29199
Abstract: In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might occur years before patients realize gait disturbances. The prodromal phase of neurodegenerative disease is of particular interest to halt disease progression by future interventions…
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Keywords:
spastic paraplegia;
hereditary spastic;
paraplegia type;
gait changes ... See more keywords
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Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102525
Abstract: Spastic paraplegia type 7 is a rare and classical monogenic inherited neurodegenerative disease caused by heterozygous mutations in the SPG7 gene. The principle clinical features include progressive spasms of the lower limbs, scissor gait, and…
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Keywords:
paraplegia type;
stem cell;
spastic paraplegia;
pluripotent stem ... See more keywords
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Published in 2023 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_901_22
Abstract: Dear Sir, Spastic paraplegia type 8 (SPG8) is a rare autosomal‐dominant hereditary spastic paraplegia (AD‐HSP) caused by the mutation in the WASHC5 (KIAA0196) gene on chromosome 8. Patients with SPG8 commonly present with progressive lower…
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Keywords:
limb spasticity;
spastic paraplegia;
paraplegia;
paraplegia type ... See more keywords