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adenine and Optic Atrophy, Hereditary, Leber

adenine has been researched along with Optic Atrophy, Hereditary, Leber in 3 studies

Optic Atrophy, Hereditary, Leber: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

Research Excerpts

ExcerptRelevanceReference
"This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression."1.34A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. ( Bettink-Remeijer, MW; de Coo, IF; Hendrickx, A; Hintzen, RQ; Maat-Kievit, A; Schoonderwoerd, KC; Sluiter, W; Smeets, HJ; Spruijt, L, 2007)
"We therefore suspected Leber's hereditary optic neuropathy (LHON) and thus performed a PCR analysis of the mitochondrial DNA."1.33[Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report]. ( Fujikawa, A; Honda, H; Ochi, M; Satoh, A; Tomita, I; Tsujihata, M, 2006)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kim, JY1
Hwang, JM1
Park, SS1
Honda, H1
Tsujihata, M1
Ochi, M1
Satoh, A1
Tomita, I1
Fujikawa, A1
Spruijt, L1
Smeets, HJ1
Hendrickx, A1
Bettink-Remeijer, MW1
Maat-Kievit, A1
Schoonderwoerd, KC1
Sluiter, W1
de Coo, IF1
Hintzen, RQ1

Other Studies

3 other studies available for adenine and Optic Atrophy, Hereditary, Leber

ArticleYear
Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.
    Annals of neurology, 2002, Volume: 51, Issue:5

    Topics: Adenine; Adolescent; Child; Cytosine; DNA, Mitochondrial; Female; Humans; Male; Middle Aged; NADH De

2002
[Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report].
    Rinsho shinkeigaku = Clinical neurology, 2006, Volume: 46, Issue:4

    Topics: Acute Disease; Adenine; Diagnosis, Differential; DNA, Mitochondrial; Guanine; Humans; Magnetic Reson

2006
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Archives of neurology, 2007, Volume: 64, Issue:6

    Topics: Adenine; Adult; DNA, Mitochondrial; Dystonia; Female; Guanine; Humans; MELAS Syndrome; Muscle Spasti

2007