Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030567 (Parkinson's disease)
63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An insertional (460-461InsA) mutation in the ferritin light polypeptide (FTL) gene was recently reported in some patients with a familial form of basal ganglia degeneration with varying extrapyramidal manifestations. Some of the affected family members presented with a phenotype indistinguishable from typical Parkinson's disease (PD). In this study, 253 patients with a clinical diagnosis of idiopathic PD were screened for the insertion in the FTL gene by polymerase chain reaction-restriction fragment length polymorphism method. The results showed that none of them had the mutation, indicating that genetic defects in the FTL gene are unlikely to be a common cause of typical PD, at least in a North America population.
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PMID:Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America. 1245 18