Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-022-11198-5DOI Listing

Publication Analysis

Top Keywords

"ears lynx"
4
lynx" sign
4
sign thin
4
thin corpus
4
corpus callosum
4
callosum mri
4
mri heterozygous
4
heterozygous spg11
4
spg11 mutation
4
mutation carriers
4

Similar Publications

Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia gene, particularly type 11, closely followed by type 15. This category is typically characterized by nonspecific clinical features, including cognitive decline, which may precede the development of progressive lower limb weakness and spasticity.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!