The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1958-1960
Number of pages3
JournalNeurology
Volume64
Issue number11
DOIs
Publication statusPublished - Jun 14 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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