Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.3.1.107 (DAT)
 1,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Semiquantitative histological evaluation of brain iron and ferritin in Parkinson's (PD) and Alzheimer's disease (DAT) have been performed in paraffin sections of brain regions which included frontal cortex, hippocampus, basal ganglia and brain stem. The results indicate a significant selective increase of Fe3+ and ferritin in substantia nigra zona compacta but not in zona reticulata of Parkinsonian brains, confirming the biochemical estimation of iron. No such changes were observed in the same regions of DAT brains. The increase of iron is evident in astrocytes, macrophages, reactive microglia and non-pigmented neurons, and in damaged areas devoid of pigmented neurons. In substantia nigra of PD and PD/DAT, strong ferritin reactivity was also associated with proliferated microglia. A faint iron staining was seen occasionally in peripheral halo of Lewy bodies. By contrast, in DAT and PD/DAT, strong ferritin immunoreactivity was observed in and around senile plaques and neurofibrillary tangles. The interrelationship between selective increase of iron and ferritin in PD requires further investigation, because both changes could participate in the induction of oxidative stress and neuronal death, due to their ability to promote formation of oxygen radicals.
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PMID:Brain iron and ferritin in Parkinson's and Alzheimer's diseases. 207 10

We discuss the clinical presentation and assessment of a middle aged previously fit and well man who presented with two episodes of syncope to the cardiologists followed by the development of a rapidly progressive parkinsonian syndrome a couple of years later, which was not responsive to standard dopaminergic replacement therapies. Magnetic resonance imaging scan of the brain was normal and a DAT SPECT scan showed reduced dopamine uptake in the basal ganglia. On further enquiry, a family history of a similar presentation in his first cousin was elicited and that cousin had tested positive for a mutation in the PRNP gene. Subsequently, he also tested positive for A117V mutation in the PRNP gene, confirming familial Creutzfeld Jakob disease. Familial Creutzfeld Jakob disease presenting with parkinsonism is rare in clinical practice, but it is something that neurologists and geriatricians running movement disorder clinics should be aware of, as this is a rapidly progressive and uniformly fatal condition with inheritance risks to family members.
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PMID:Rare case of atypical parkinsonism: why family history is important. 2919 64