Journal
ACTA NEUROPATHOLOGICA
Volume 111, Issue 6, Pages 610-616Publisher
SPRINGER
DOI: 10.1007/s00401-006-0040-5
Keywords
NARP; Leigh's syndrome; mitochondrial disease; 8993 T to G mutation; ATP synthase; striatum necrosis
Categories
Ask authors/readers for more resources
The 8993 T > G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T > G mutation. Post-mortem studies of the brain in one affected member clinically presenting with a neurological disorder intermediate between adult Leigh's syndrome and NARP showed symmetrical lesions of the basal ganglia and brainstem closely resembling those usually described in typical Leigh's syndrome. Analysis of mtDNA in different tissues showed a high proportion of mutant genome in brainstem, cerebral cortex, putamen, cerebellum and thalamus. These observations illustrate the continuum of clinical and neuropathological manifestations associated with the 8993 T > G mutation of the mtDNA.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available