Journal article

Authors list: Loebbe, Anna Mareike; Kang, Jun-Suk; Hilker, Ruediger; Hackstein, Holger; Mueller, Ulrich; Nolte, Dagmar

Publication year: 2014

Pages: 493-496

Journal: Journal of Molecular Neuroscience

Volume number: 52

Issue number: 4

ISSN: 0895-8696

eISSN: 1559-1166

DOI Link: https://doi.org/10.1007/s12031-013-0187-1

Publisher: Springer

Abstract: 
SCA28 is caused by mutations in the AFG3L2 gene. This gene encodes a subunit of the mitochondrial metalloprotease AFG3L2 (AFG3-like protein 2). Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. The nucleotide change results in the substitution of an evolutionarily highly conserved tyrosine by histidine (p.Y689H) in the M41 peptidase domain of AFG3L2.

Harvard Citation style: Loebbe, A., Kang, J., Hilker, R., Hackstein, H., Mueller, U. and Nolte, D. (2014) A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28, Journal of Molecular Neuroscience, 52(4), pp. 493-496. https://doi.org/10.1007/s12031-013-0187-1

APA Citation style: Loebbe, A., Kang, J., Hilker, R., Hackstein, H., Mueller, U., & Nolte, D. (2014). A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28. Journal of Molecular Neuroscience. 52(4), 493-496. https://doi.org/10.1007/s12031-013-0187-1