English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

Hereditary spastic paraplegia 73 ( SPG 73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl‐transferase 1C (  CPT 1C ) gene. We described a new family, in which affected individuals exhibited pure hereditary spastic paraplegia with benign clinical course. Exome sequencing revealed a novel nonsense variant in the   CPT 1C  gene. The level of   CPT 1C  mutant transcript significantly decreased compared to that of wild‐type transcript, and can be recovered after cycloheximide administration, which indicated that nonsense‐mediated  mRNA  decay was a mechanism that might be responsible for the phenotype. Our findings expanded the clinical and genetic spectrum of  SPG 73.

A novel CPT 1C variant causes pure hereditary spastic paraplegia with benign clinical course