Heterozygous OPA1 mutations in Behr syndrome

Comment

Cecilia Marelli et al. Brain. 2011 Apr.

. 2011 Apr;134(Pt 4):e169; author reply e170.

doi: 10.1093/brain/awq306. Epub 2010 Nov 26.

No abstract available

Comment in

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.
Pretegiani E, Rufa A, Gallus GN, Cardaioli E, Malandrini A, Federico A. Pretegiani E, et al. Brain. 2011 Nov;134(Pt 11):e195. doi: 10.1093/brain/awr101. Epub 2011 Jun 6. Brain. 2011. PMID: 21646330 No abstract available.
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Yu-Wai-Man P, Chinnery PF. Yu-Wai-Man P, et al. Brain. 2014 Oct;137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10. Brain. 2014. PMID: 25012222 Free PMC article. No abstract available.

Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.