Phenotypic Variability of a Likely FA2H Founder Mutation in a Family with Complicated Hereditary Spastic Paraplegia

Overview

Journal Clin Genet

Specialty Genetics

Date 2013 Jun 11

PMID 23745665

Citations 9

Authors

S Donkervoort

J Dastgir

Y Hu

W M Zein

H Marks

C Blackstone

C G Bonnemann

Affiliations

Soon will be listed here.

Citing Articles

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

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Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Marelli C, Salih M, Nguyen K, Mallaret M, Leboucq N, Hassan H Mov Disord Clin Pract. 2019; 2(1):56-60.

PMID: 30713878 PMC: 6353525. DOI: 10.1002/mdc3.12118.

Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.

Incecik F, Besen S, Bozdogan S Ann Indian Acad Neurol. 2018; 21(4):335-339.

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References

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Dick K, Eckhardt M, Paisan-Ruiz C, Alshehhi A, Proukakis C, Sibtain N . Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010; 31(4):E1251-60. DOI: 10.1002/humu.21205. View

Pierson T, Simeonov D, Sincan M, Adams D, Markello T, Golas G . Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet. 2011; 20(4):476-9. PMC: 3306865. DOI: 10.1038/ejhg.2011.222. View

Schneider S, Bhatia K . 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. DOI: 10.1002/ana.22211. View