A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.
Nelson
I
I
University Department of Clinical Neurology, Institute of Neurology, London, United Kingdom.
Hanna
M G
MG
Alsanjari
N
N
Scaravilli
F
F
Morgan-Hughes
J A
JA
Harding
A E
AE
D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002819:Chorea / Q000235:genetics* / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis*; D003638:Deafness / Q000235:genetics*; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D013577:Syndrome
D004272:DNA, Mitochondrial