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. 2021 Mar 9;7(2):e573.
doi: 10.1212/NXG.0000000000000573. eCollection 2021 Apr.

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

Affiliations

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

Giacomo Sferruzza et al. Neurol Genet. .
No abstract available

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Figures

Figure 1
Figure 1. Brain MRI, the Result of Sequence Analysis, SDS-PAGE, and BN-PAGE
(A) Brain MRIs showing multifocal confluent T2/FLAIR hyperintense lesions involving the supratentorial bihemispheric subcortical white matter, mainly located at the cortical-juxtacortical junction involving the U-fibers. Periventricular white matter is involved bilaterally, and the body of the corpus callosum showed few focal lesions. Hyperintense T2/FLAIR putaminal rim could be detected on both sides, involving the external capsule bilaterally. The cortex is preserved. After contrast injection, no area of enhancement could be picked up (not shown). Frontal subcortical lesions were partially necrotic on T1-weighted images. No focal lesions were detected at the level of the basal ganglia, as well as the brainstem and cerebellum. There is evidence of a mild brain atrophy, with a moderate ventricular system enlargement and prominent sulci at the vertex. MR spectroscopy did not show any abnormal findings (data not shown). (B) Family pedigree of the patient. Black and white symbols indicate the proband and healthy family members, respectively. Electropherograms of wild-type and mutated sequences are shown below. (C) SDS-PAGE and WB analysis of MT-CO1 and OPA1 normalized on translocase of outer mitochondrial membrane 40 (TOM40). (D) BN-PAGE and WB analysis of assembled COX (200 kDa) normalized on TOM complex (400 kDa). BN-PAGE = blue native polyacrylamide gel electrophoresis; COX = cytochrome c oxidase; FLAIR = fluid-attenuated inversion recovery; MSTO1 = mitochondrial distribution and morphology regulator 1; MT-CO1 = mitochondria-encoded cytochrome c oxidase subunit I; OPA1 = optic atrophy gene 1; SDS-PAGE = sodium dodecyl sulfate–polyacrylamide gel electrophoresis; TACO1 = translational activator of cytochrome c oxidase I; WB = Western blot.

References

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