Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Approval
2.2. Neuroimaging
2.3. Genetic Analysis and Sanger Sequence Validation
2.4. Cell Culture
2.5. SDS-PAGE, BN-PAGE, and Immunoblotting
2.6. OxPhos Enzyme Activity Assays
2.7. Lentivirus-Mediated Complementation Assay
2.8. Statistical Analysis
3. Results
4. Discussion
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Neuroradiological Involvement (MRI Criteria) | LBSL (MRI Criteria) | LS (MRI Criteria) | MRI of the Subject (3 Years) | MRI of the Subject (13 Years) |
---|---|---|---|---|
Cerebral white matter | Affected (relative sparing of the subcortical white matter) | Unaffected/affected † | Affected | Affected |
Corpus callosum | Genu, splenium, diffuse atrophy; affected | ♣ | Splenium; affected | Diffuse atrophy; affected |
Internal capsule | Anterior limb † & posterior limb; affected | ♣ | Anterior limb & posterior limb; affected | Anterior limb; affected |
Basal ganglia | Globus pallidus, caudate nucleus, putamen; affected/unaffected | Globus pallidus, caudate nucleus, putamen; affected /unaffected | Caudate nucleus, putamen; affected | Caudate nucleus, putamen; affected |
Thalamus | Unaffected/affected † | Affected | Affected | Unaffected |
Substantia nigra | Unaffected | Affected | Affected | Unaffected |
Dentate nucleus | Affected | Affected † | Unaffected | Unaffected |
Cerebral peduncle | Unaffected | Affected | Affected | Unaffected |
Cerebellar peduncles | Affected | Unaffected/affected † | Affected | Affected |
Mid brain | Tegmentum, pyramidal tract, medial lemniscus; affected | Periaqueductal region, tegmentum; affected | Periaqueductal region, tegmentum; affected | Unaffected |
Pons | Pyramidal tract, medial lemniscus, superior cerebellar peduncle, intraparenchymal part V cranial nerve, mesencephalic trigeminal tract; affected | Affected ♣ | Pyramidal tract, medial lemniscus, superior cerebellar peduncle; affected | Superior cerebellar peduncle; affected |
Medulla oblongata | Pyramidal tract, medial lemniscus, inferior cerebellar peduncle, anterior spinocerebellar tracts; affected | Affected ♣ | Pyramidal tract, medial lemniscus, spinocerebellar tracts; affected | Inferior cerebellar peduncle, high signals; affected |
Spinal cord | Dorsal columns & lateral corticospinal tracts of the spinal cord; affected | Unaffected/affected †♣ | Dorsal columns & lateral corticospinal tracts; affected | Central part of the spinal cord, affected |
Cerebellar white matter | Affected | Affected | Unaffected | Unaffected |
Cerebral atrophy | Unaffected | Affected | Unaffected | Affected |
Cerebellar atrophy | Affected | Affected | Unaffected | Unaffected |
Gene | DARS2, ISCA2 | >75 genes | NDUFV1 | NDUFV1 |
References | Toldo et al. (2018) [9], Steenweg et al. (2012) [13] | Rahman et al. (1996) [15], Bonfante et al. (2016) [17] | This paper | This paper |
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Borna, N.N.; Kishita, Y.; Sakai, N.; Hamada, Y.; Kamagata, K.; Kohda, M.; Ohtake, A.; Murayama, K.; Okazaki, Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes 2020, 11, 1325. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11111325
Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes. 2020; 11(11):1325. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11111325
Chicago/Turabian StyleBorna, Nurun Nahar, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, and Yasushi Okazaki. 2020. "Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL" Genes 11, no. 11: 1325. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11111325