^ Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration. Neurodegeneration with Brain Iron Accumulation 1. Hereditary disease of children. Features include generalized dystonia with predominance of oromandibular involvement, behavioral changes followed by dementia, and retinal degeneration in some cases optic atrophy.
^ Haplogroup A group of similar haplotypes that share a common ancestor with a single nucleotide polymorphism (SNP) mutation. Certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy. Furthermore, clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet. 2007 Aug;81(2):228-33.PMID 17668373 PubMed central free full text
Wikipedia Haplogroup J
^ Haplotype An association of secondary mutations with the primary mutation in prevalence higher than normal. e.g.Johns and Berman in 1991 showed the frequency of mtDNA mutations at nucleotides 4216 and 13708 were associated more often with 11778 LHON patients than with normal controls.
Johns DR, Berman J (1991) Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324 PMID 1900003
Wikipedia HapMap project
^ Heteroplasmy When different cells in an organism may have different mutations of a gene. cf Homoplasmy.
^ HIV (Human Immune deficiency Virus) Retro virus responsible for the Acquired Immune Deficiency Syndrome. Visual field defects consistent with optic nerve disease can occur in HIV infection. see AIDS
^ Homoplasmy Where all cells in an organism have the same gene mutation or allele. cf Heteroplasmy.
^ Horizontal Cell
^ Hypoplasia, Optic Nerve or Optic Nerve Aplasia
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