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
. 2014 Apr;85(4):393-5.
doi: 10.1111/cge.12185. Epub 2013 Jun 10.

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

S Donkervoort  1 , J Dastgir, Y Hu, W M Zein, H Marks, C Blackstone, C G Bönnemann
Affiliations
Case Reports

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

S Donkervoort et al. Clin Genet. 2014 Apr.
No abstract available

PubMed Disclaimer

Conflict of interest statement

There are no conflicts to disclose.

Figures

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

References

    1. Dick KJ, et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) Hum Mutat. 2010;31(4):E1251–60. - PubMed
    1. Pierson TM, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet. 2012;20(4):476–9. - PMC - PubMed
    1. Edvardson S, et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008;83(5):643–8. - PMC - PubMed
    1. Kruer MC, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Ann Neurol. 2010;68(5):611–8. - PMC - PubMed
    1. Schneider SA, Bhatia KP. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010;68(5):575–7. - PubMed

Substances

LinkOut - more resources