Article
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
Neurology - 14 Jun 2005
Albanese A, Valente E M, Romito L M, Bellacchio E, Elia A E, Dallapiccola B
Abstract excerpt
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...
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