Brain stem lesion in mitochondrial DNA G11778A mutation of Leber's hereditary optic neuropathy.
نویسندگان
چکیده
a Department of Ophthalmology, Changhua Christian Hospital, Changhua, Taiwan b Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan c Department of Medical Imaging, Changhua Christian Hospital, Changhua, Taiwan d Vascular and Genomics Center, Changhua Christian Hospital, Changhua, Taiwan e Department of Neurology, Changhua Christian Hospital, Changhua, Taiwan f Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
منابع مشابه
Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
BACKGROUND Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON plus" have been reported. CASE REPORT The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze pals...
متن کاملExtremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
PURPOSE To investigate the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families. DESIGN Eight Han Chinese families with maternally transmitted LHON were studied using clinical, genetic, and molecular evaluations. PARTICIPANTS One hundred sixty-seven subjects from 8 Chinese families with...
متن کاملLeber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families.
Leber's hereditary optic neuroretinopathy (LHON) is manifested as a bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA, which is inherited maternally. The most common mitochondrial DNA point mutations associated with LHON are G3460A, G11778A and T14484C. These mutations are linked with the defects of subunits of the comp...
متن کاملTwo families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.
The mitochondrial haplogroup has been reported to affect the clinical expression of Leber's hereditary optic neuropathy (LHON). The present study aimed to investigate the interaction between mutations and the haplogroup of mitochondrial DNA (mtDNA) in families. Two unrelated families with LHON were enrolled in the study, and clinical, genetic and molecular characterizations were determined in t...
متن کاملThe mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve disease. The majority of LHON patients harbour one of three point mutations of the mitochondrial DNA (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A in ND1, T14484C in ND6). As a consequence, screening for these mutations has become part of the routine clinical investiga...
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ورودعنوان ژورنال:
- Journal of the Formosan Medical Association = Taiwan yi zhi
دوره 114 7 شماره
صفحات -
تاریخ انتشار 2015