Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Jul 11;134(17):e178919.
doi: 10.1172/JCI178919.

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Vicente Quiroz  1 , Laura Planas-Serra  2   3 , Abigail Sveden  4 , Amy Tam  1 , Hyo-Min Kim  1 , Umar Zubair  1 , Dario Resch  1 , Afshin Saffari  1 , Matt C Danzi  5 , Stephan Züchner  5 , Maya Chopra  4 , Luca Schierbaum  1 , Aurora Pujol  2   3   6 , Erik A Eklund  7 , Darius Ebrahimi-Fakhari  1
Affiliations
Case Reports

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Vicente Quiroz et al. J Clin Invest. .
No abstract available

Keywords: Clinical practice; Genetics; Movement disorders; Neurodegeneration; Neuroscience.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: The authors have declared that no conflict of interest exists.

Figures

Figure 1
Figure 1
See this image and copyright information in PMC

References

    1. Cousin MA, et al. RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities. Am J Hum Genet. 2019;105(1):108–121. doi: 10.1016/j.ajhg.2019.05.011. - DOI - PMC - PubMed
    1. Launay N, et al. RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia. J Clin Invest. 2023;133(14):e162836. doi: 10.1172/JCI162836. - DOI - PMC - PubMed

Publication types