AI Article Synopsis
- Mutations in the PINK1 gene lead to a type of early onset Parkinson's disease that varies in symptoms among patients.
- A specific case involved a patient with the Ala168Pro mutation, who started showing symptoms at 39 years old.
- Despite this early onset, the patient responded well to levodopa treatment and exhibited clinical features similar to typical idiopathic Parkinson's disease, with no significant differences in SPECT imaging or autonomic function assessments.
Article Abstract
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
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| http://dx.doi.org/10.1212/01.WNL.0000163999.72864.FD | DOI Listing |
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