Hereditary spastic paraplegia with novel SPG11 mutation from India: expanding the genotypic spectrum

Abstract Background Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC) linked to SPG11 mutations represents a significant subtype of complex HSP. While numerous SPG11 variants have been reported globally, the genetic spectrum continues to expand, particularly in underrepresented popul...

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Bibliographic Details
Published in:Egyptian Journal of Medical Human Genetics
Main Author: Abhishek Dixit
Format: Article
Language:English
Published: SpringerOpen 2025-09-01
Subjects:
Hereditary spastic paraplegia
SPG11 mutation
Thin corpus callosum
Spatacsin
Neurodegenerative disorder
Online Access:https://doi.org/10.1186/s43042-025-00784-7

Internet

https://doi.org/10.1186/s43042-025-00784-7

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