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Case Reports
. 2015 May 26;84(21):2193-5.
doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Anna Ardissone  1 , Giuseppe Piscosquito  1 , Andrea Legati  1 , Tiziana Langella  1 , Eleonora Lamantea  1 , Barbara Garavaglia  1 , Ettore Salsano  1 , Laura Farina  1 , Isabella Moroni  1 , Davide Pareyson  2 , Daniele Ghezzi  2
Affiliations
Case Reports

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Anna Ardissone et al. Neurology. .
No abstract available

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Figures

Figure
Figure. Brain MRI, biochemical, and genetic features
(A) Sagittal T2-weighted image. (B) Coronal fluid-attenuated inversion recovery image. (C) Axial proton density–weighted image. (A–C) Diffuse cerebellar atrophy. Hyperintensity of dentate (B, arrow on the right) and olivar (C, arrow on the right) nuclei are also present. (D) Activities of mitochondrial respiratory chain complexes (cI, cI + III, cII, cII + III, cIV) in patient muscle homogenate, reported as percentages of the controls mean. The specific activities were normalized for citrate synthase (CS) activity. (E) Snapshot from IGV software of the region containing the mutation identified in the patient. AIFM1 is on the reverse strand, hence the highlighted nucleotide (T) corresponds to the complementary of mutant c.784A. (F) Family pedigree shows the segregation of the c.784G>A mutation. The mother, heterozygous for the mutation, was asymptomatic; none of her 6 siblings has ever presented signs of mitochondrial disorder. No neurophysiologic testing was performed. (G) Western blot analysis of fibroblasts from patient (Pt) and controls (Ct1, Ct2, Ct3) using antibodies against AIFM1 and GAPDH, the latter used as loading control. The reported percentages correspond to the values of AIFM1/GAPDH signals obtained by densitometric analysis. One hundred percent corresponds to the mean value from controls.
See this image and copyright information in PMC

References

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