the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe b...

the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe b...

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 5...

Leber hereditary optic neuropathy (LHON) was the first mitochondrial disease to be identified as being caused by mutations in the mitochondrial DNA (mtDNA). This disease has been studied extensively in the past two decades, particularly in Brazilian, Chinese and European populations; and many primary mutations have been reported. However, the disease is enigmatic with many unique features, and ...

Leber’s Hereditary Optic Neuropathy (LHON) appears as an enigmatic condition; affecting only certain families and often causing a severe loss of vision seemingly at random amongst family members. The first breakthrough came in 1988 with the linking of the condition to a mutation in the mitochondrial DNA (mtDNA). Now it is known that about 90% of cases are linked to 3 mutations. In this paper th...

Leber’s Hereditary Optic Neuropathy (LHON) appears as an enigmatic condition; affecting only certain families and often causing a severe loss of vision seemingly at random amongst family members. The first breakthrough came in 1988 with the linking of the condition to a mutation in the mitochondrial DNA (mtDNA). Now it is known that about 90% of cases are linked to 3 mutations. In this paper th...

Leber’s Hereditary Optic Neuropathy (LHON) appears as an enigmatic condition; affecting only certain families and often causing a severe loss of vision seemingly at random amongst family members. The first breakthrough came in 1988 with the linking of the condition to a mutation in the mitochondrial DNA (mtDNA). Now it is known that about 90% of cases are linked to 3 mutations. In this paper th...

Leber’s Hereditary Optic Neuropathy (LHON) appears as an enigmatic condition; affecting only certain families and often causing a severe loss of vision seemingly at random amongst family members. The first breakthrough came in 1988 with the linking of the condition to a mutation in the mitochondrial DNA (mtDNA). Now it is known that about 90% of cases are linked to 3 mutations. In this paper th...

Leber’s Hereditary Optic Neuropathy (LHON) appears as an enigmatic condition; affecting only certain families and often causing a severe loss of vision seemingly at random amongst family members. The first breakthrough came in 1988 with the linking of the condition to a mutation in the mitochondrial DNA (mtDNA). Now it is known that about 90% of cases are linked to 3 mutations. In this paper th...

Neuromyelitis optica (NMO), or Devic’s disease, is a relapsing demyelinating disease of the central nervous system characterized by optic neuritis and myelitis with distinct clinical, imaging, CSF and serological features (Wingerchuk et al., 2006). There is increasing evidence that NMO is an antibody-mediated organ-specific autoimmune disease associated with anti-aquaporin 4 antibodies detectab...