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Neurology. 2000 Jul 25;55(2):302-4.

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

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Department of Neurology, The University of Newcastle upon Tyne, UK.


The authors analyzed the relationship between nuclear genetic risk factors (apolipoprotein E genotype) and mitochondrial DNA (mtDNA) sequence variants in pathologically proved cases of AD (n = 185), dementia with Lewy bodies (DLB; n = 84), and control subjects (n = 179). Specific European mtDNA haplogroups and the A4336G mutation were not associated with an increased risk of AD. mtDNA haplogroup H was overrepresented in the DLB patients when compared with control subjects. Additional studies are needed to clarify the significance of the association.

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