Occult primary white matter impairment in Leber’s hereditary optic neuropathy

2021 ◽  
Author(s):  
Ling Wang ◽  
Hao Ding ◽  
Bihong T. Chen ◽  
Ke Fan ◽  
Qin Tian ◽  
...  
Keyword(s):  
White Matter ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

scholarly journals Neuroanatomical Changes in Leber’s Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry

2020 ◽  
Vol 10 (6) ◽  
pp. 359 ◽  
Author(s):  
Kamil Jonak ◽  
Paweł Krukow ◽  
Mark Symms ◽  
Ryszard Maciejewski ◽  
Cezary Grochowski
Keyword(s):  
White Matter ◽  
Optic Neuropathy ◽  
Clinical Picture ◽  
Diffusion Tensor ◽  
Optic Tract ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Lateral Ventricles ◽  
Subcortical Brain ◽  
Hereditary Optic Neuropathy

Leber’s hereditary optic neuropathy (LHON) is one of the mitochondrial diseases that causes loss of central vision, progressive impairment and subsequent degeneration of retinal ganglion cells (RGCs). In recent years, diffusion tensor imaging (DTI) studies have revealed structural abnormalities in visual white matter tracts, such as the optic tract, and optic radiation. However, it is still unclear if the disease alters only some parts of the white matter architecture or whether the changes also affect other subcortical areas of the brain. This study aimed to improve our understanding of morphometric changes in subcortical brain areas and their associations with the clinical picture in LHON by the application of a submillimeter surface-based analysis approach to the ultra-high-field 7T magnetic resonance imaging data. To meet these goals, fifteen LHON patients and fifteen age-matched healthy subjects were examined. For all individuals, quantitative analysis of the morphometric results was performed. Furthermore, morphometric characteristics which differentiated the groups were correlated with variables covering selected aspects of the LHON clinical picture. Compared to healthy controls (HC), LHON carriers showed significantly lower volume of both palladiums (left p = 0.023; right p = 0.018), the right accumbens area (p = 0.007) and the optic chiasm (p = 0.014). Additionally, LHON patients have significantly higher volume of both lateral ventricles (left p = 0.034; right p = 0.02), both temporal horns of the lateral ventricles (left p = 0.016; right p = 0.034), 3rd ventricle (p = 0.012) and 4th ventricle (p = 0.002). Correlation between volumetric results and clinical data showed that volume of both right and left lateral ventricles significantly and positively correlated with the duration of the illness (left R = 0.841, p = 0.002; right R = 0.755, p = 0.001) and the age of the LHON participants (left R = 0.656, p = 0.007; right R = 0.691, p = 0.004). The abnormalities in volume of the LHON patients’ subcortical structures indicate that the disease can cause changes not only in the white matter areas constituting visual tracts, but also in the other subcortical brain structures. Furthermore, the correlation between those results and the illness duration suggests that the disease might have a neurodegenerative nature; however, to fully confirm this observation, longitudinal studies should be conducted.

scholarly journals Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

2021 ◽  
Vol 1 (26) ◽  
Author(s):  
Wakiko Saruta ◽  
Ichiyo Shibahara ◽  
Hajime Handa ◽  
Madoka Inukai ◽  
Shunsuke Kanayama ◽  
...  
Keyword(s):  
White Matter ◽  
Brain Tissue ◽  
Optic Neuropathy ◽  
Gliomatosis Cerebri ◽  
Illustrative Case ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
White Matter Changes ◽  
Diffuse White Matter ◽  
Hereditary Optic Neuropathy

BACKGROUIND Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The findings on cranial magnetic resonance imaging of patients with LHON vary from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. OBSERVATIONS The authors reported a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity, supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2′-deoxyguanosine positivity, suggesting the presence of oxidative stress. LESSONS LHON is extremely difficult to diagnose unless one suspects or knows the disease. The present case brings attention not only to LHON but also to other mtDNA-mutated diseases that need to be considered with diffuse white matter changes or GC.

White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up

2015 ◽  
Vol 235 (1) ◽  
pp. 49-56 ◽  
Author(s):  
Jasna Jančić ◽  
Ivana Dejanović ◽  
Saša Radovanović ◽  
Jelena Ostojić ◽  
Duško Kozić ◽  
...  
Keyword(s):  
White Matter ◽  
Magnetic Resonance ◽  
Optic Neuropathy ◽  
Cerebellar Hemisphere ◽  
Resonance Spectroscopy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Hereditary Optic Neuropathy

We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (H-MRS) findings but without neurological manifestation associated with LHON. The study included 14 LHON patients and 41 asymptomatic family members from 12 genealogically unrelated families. MRI showed white matter involvement and H-MRS exhibited metabolic anomalies within 12 LHON families. Main outcome measures were abnormal MRI and H-MRS findings in two pedigrees. MRI of the proband of the first pedigree showed a single demyelinating lesion in the right cerebellar hemisphere, while the proband of the second family displayed multiple supratentorial and infratentorial lesions, compatible with the demyelinating process, and both the absolute choline (Cho) concentration and Cho/creatinine ratio were increased. MRI and H-MRS profiles of both affected and unaffected mitochondrial DNA mutation carriers suggest more widespread central nervous involvement in LHON. Although even after 12 years our patients did not develop neurological symptoms, MRI could still be used to detect possible changes during the disease progression.

Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study

2012 ◽  
Vol 259 (9) ◽  
pp. 1801-1807 ◽  
Author(s):  
Jacopo Milesi ◽  
Maria A. Rocca ◽  
Stefania Bianchi-Marzoli ◽  
Melissa Petrolini ◽  
Elisabetta Pagani ◽  
...  
Keyword(s):  
White Matter ◽  
Spatial Statistics ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Tract Based Spatial Statistics ◽  
Hereditary Optic Neuropathy

White matter changes in Leber's hereditary optic neuropathy: MRI findings

2007 ◽  
Vol 14 (5) ◽  
pp. 591-593 ◽  
Author(s):  
W. Küker ◽  
A. Weir ◽  
G. Quaghebeur ◽  
J. Palace
Keyword(s):  
White Matter ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mri Findings ◽  
White Matter Changes ◽  
Hereditary Optic Neuropathy

scholarly journals NI-19 A case of Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri

2021 ◽  
Vol 3 (Supplement_6) ◽  
pp. vi21-vi21
Author(s):  
Wakiko Saruta ◽  
Ichiyo Shibahara ◽  
Madoka Inukai ◽  
Shunsuke Kanayama ◽  
Hisanao Akiyama ◽  
...  
Keyword(s):  
White Matter ◽  
Brain Tissue ◽  
Optic Neuropathy ◽  
Vision Loss ◽  
Gliomatosis Cerebri ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
White Matter Changes ◽  
Diffuse White Matter ◽  
Hereditary Optic Neuropathy

Abstract BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The cranial magnetic resonance imaging (MRI) of LHON patients varies from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. CASE REPORT: We report a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2’-deoxyguanosine positivity, suggesting the presence of oxidative stress. CONCLUSION: LHON is extremely difficult to diagnose unless we suspect or know the disease. The present case brings attention not only to LHON but other mtDNA mutated diseases that need to be considered with diffuse white matter changes or GC.

Brain white matter changes in asymptomatic carriers of Leber’s hereditary optic neuropathy

2019 ◽  
Vol 266 (6) ◽  
pp. 1474-1480 ◽  
Author(s):  
Miaomiao Long ◽  
Ling Wang ◽  
Qin Tian ◽  
Hao Ding ◽  
Wen Qin ◽  
...  
Keyword(s):  
White Matter ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
White Matter Changes ◽  
Asymptomatic Carriers ◽  
Brain White Matter ◽  
Hereditary Optic Neuropathy
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