Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.23 (beta-galactosidase)
 14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A putative new type of familial parkinsonism with peculiar putaminal changes in MRI was reported. The pedigree was cousin marriage, and three out of four siblings developed parkinsonism in their 2nd or 3rd decade. Their clinical signs were saccadic eye movement, dysarthria, rigidity, bradykinesia and postural instability. These symptoms partially responded to levodopa therapy and showed mild progression. There was no diurnal fluctuation of the symptoms or alleviation after sleep. Lack of Parkin gene mutation and normal beta-galactosidase activities was observed. The cranial MRI study disclosed putaminal increased signal intensities in T2-weighted and proton density images. The severity of these finding correlated with the severity of the symptoms. Familial parkinsonism with MRI findings similar to this pedigree has not been reported in the literature. It is suggested that the present pedigree could be classified as a new subgroup of familial parkinsonism.
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PMID:[Familial parkinsonism with the abnormalities in putamen on MRI]. 1118 16