Fe/S Protein Assembly Gene IBA57 Mutation Causes SPOAN-like Hereditary Spastic Paraplegia. Lossos et al, Neurology 2015.

Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R.

Fe/S Protein Assembly Gene IBA57 Mutation Causes Hereditary Spastic Paraplegia

Neurology 2015 (advance online January 21).

FIGURE : Clinical findings. (A) Bilateral optic nerve atrophy and (B) optical coherence tomography in patient III-6 showing diffuse thinning of the peripapillary retinal ganglion cell fibers of the optic nerve heads. (C) Mild distal leg muscle atrophy and pes cavus in patient III-5. (D) Cerebral MRI in patient III-5 showing mild corpus callosum and cerebellar atrophy and scattered foci of fluid attenuated inversion recovery (FLAIR)-hyperintensity in the cerebral white matter, some of which appeared with central cystic cavitation.

IBA57 Figure 2 small