Erschienen in:
08.02.2020 | Scientific Letter
Spastic Paraplegia Type 56 in a Young Child
verfasst von:
Sukla Samaddar, Parneet Kaur, K. V. Rajagopal, Katta Mohan Girisha, Anju Shukla, Suvasini Sharma
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 8/2020
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Excerpt
To the Editor: Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse neurodegenerative disorders.
CYP2U1-related SPG (spastic paraplegia 56, MIM# 615030) is a recently identified type of SPG characterised by early onset spastic paraparesis with dystonia, intellectual disability, and variable neuroimaging findings [
1]. …