White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up
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2016
Authors
Jančić, JasnaDejanović, Ivana
Radovanović, Saša M.
Ostojić, Jelena
Kozić, Dusko
Đurić-Jovičić, Milica
Samardzić, Janko
Cetković, Mila
Kostić, Vladimir S.
Article (Published version)
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We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (HMRS) 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 ce...ntral 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.
Keywords:
Magnetic resonance imaging / Magnetic resonance spectroscopy / Mitochondrial disease / mtDNA mutationsSource:
Ophthalmologica, 2016, 235, 1, 49-56Publisher:
- Karger, Basel
Funding / projects:
- Comparative analysis of clinical features and biomarkers to predict disease evolution in multiple sclerosis and other immune-mediated neurological disorders (RS-175031)
- Motor and non-motor symptoms and signs in parkinsonism: clinical, morphological and molecular-genetic correlates (RS-175090)
DOI: 10.1159/000441089
ISSN: 0030-3755
PubMed: 26540208
WoS: 000368184600007
Scopus: 2-s2.0-84955211255
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Institut za medicinska istraživanjaTY - JOUR AU - Jančić, Jasna AU - Dejanović, Ivana AU - Radovanović, Saša M. AU - Ostojić, Jelena AU - Kozić, Dusko AU - Đurić-Jovičić, Milica AU - Samardzić, Janko AU - Cetković, Mila AU - Kostić, Vladimir S. PY - 2016 UR - http://rimi.imi.bg.ac.rs/handle/123456789/722 AB - We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (HMRS) 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. PB - Karger, Basel T2 - Ophthalmologica T1 - White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up EP - 56 IS - 1 SP - 49 VL - 235 DO - 10.1159/000441089 ER -
@article{ author = "Jančić, Jasna and Dejanović, Ivana and Radovanović, Saša M. and Ostojić, Jelena and Kozić, Dusko and Đurić-Jovičić, Milica and Samardzić, Janko and Cetković, Mila and Kostić, Vladimir S.", year = "2016", abstract = "We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (HMRS) 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.", publisher = "Karger, Basel", journal = "Ophthalmologica", title = "White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up", pages = "56-49", number = "1", volume = "235", doi = "10.1159/000441089" }
Jančić, J., Dejanović, I., Radovanović, S. M., Ostojić, J., Kozić, D., Đurić-Jovičić, M., Samardzić, J., Cetković, M.,& Kostić, V. S.. (2016). White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up. in Ophthalmologica Karger, Basel., 235(1), 49-56. https://doi.org/10.1159/000441089
Jančić J, Dejanović I, Radovanović SM, Ostojić J, Kozić D, Đurić-Jovičić M, Samardzić J, Cetković M, Kostić VS. White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up. in Ophthalmologica. 2016;235(1):49-56. doi:10.1159/000441089 .
Jančić, Jasna, Dejanović, Ivana, Radovanović, Saša M., Ostojić, Jelena, Kozić, Dusko, Đurić-Jovičić, Milica, Samardzić, Janko, Cetković, Mila, Kostić, Vladimir S., "White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up" in Ophthalmologica, 235, no. 1 (2016):49-56, https://doi.org/10.1159/000441089 . .