Research articleHereditary spastic dystonia with Leber's hereditary optic neuropathy: Neuropathological findings
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Cited by (19)
An overview of neurological and neuromuscular signs in mitochondrial diseases
2014, Revue NeurologiqueCitation Excerpt :The homoplasmic m.9176 T>C mutation in the mitochondrial ATP6 gene was reported by Verny et al., 2011 [127], in a large family suffering from a late-onset spastic paraplegia-like disorder. In a large Dutch family, 24 individuals over 7 generations presented hereditary spastic dystonia and Leber optic neuropathy, either separately or in combination, with 2 identified mutations in ND4 and ND6 mitochondrial genes [128]. Spastic paraplegia type 55 (SPG55), due to c12orf65 mutation, is defined by early-onset spastic paraparesis with optic atrophy and axonal neuropathy [129].
Movement disorders and mitochondrial disease
2011, Handbook of Clinical NeurologyCitation Excerpt :Affected members had bilateral putaminal necrosis on brain imaging, except for two patients who had only unilateral involvement (Bruyn et al., 1991). Neuropathological examination of one patient showed complete neuronal depletion in the putamen and lateral caudate (Bruyn et al., 1992). De Vries et al. (1996) later discovered the presence of two mtDNA point mutations in this pedigree: a homoplasmic T to A transition at position 14596 and a heteroplasmic A to G transition at position 11696.
Chapter 4 Leber's Hereditary Optic Neuropathy
2002, Blue Books of Practical NeurologyProgressive dystonia with optic atrophy in a Jewish-Iraqi family
1997, Journal of the Neurological Sciences