Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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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)
Parkinsonism can be the presenting feature of frontotemporal dementia due to Progranulin (
GRN
) mutations or develop over the course of the disease, mimicking idiopathic Parkinson's disease or atypical parkinsonism. Here we report on a patient carrying a novel
GRN
mutation who presented with asymmetric parkinsonism and developed cognitive decline and language alterations two years later. Brain MRI showed mild asymmetric fronto-parietal atrophy. Single-photon emission computed tomography with I123 ioflupane (
DAT
-Scan) demonstrated reduced tracer uptake in the left putamen. Larger studies are needed to clarify whether presynaptic dopaminergic deficit is present in all
GRN
mutation carriers or only in those with parkinsonism.
...
PMID:Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism. 2406 67
