Early-Onset Parkinsonism: Case Report and Review of the Literature

Ahmed Al-Rumayyan*, Christine Klein, Majid Alfadhel

*Corresponding author for this work
4 Citations (Scopus)


Background Early-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade of life, slow disease progression, resting tremor, rigidity, bradykinesia, postural instability, and levodopa-induced dyskinesia. Methods We evaluated a child with early-onset symptoms and performed a literature review for previously reported examples of children aged 18 years or less with PINK1 gene defects. Results We describe a five-year-old boy with autosomal recessive early-onset parkinsonism caused by a homozygous missense mutation in the PINK1 gene. This is the youngest individual yet reported with early-onset parkinsonism. Conclusion PINK1-type of early-onset parkinsonism can occur in very young patients, and phenotypic expression of PINK1 mutations may depend on age of onset and ethnicity.

Original languageEnglish
JournalPediatric Neurology
Pages (from-to)102-106.e1
Publication statusPublished - 01.02.2017

Research Areas and Centers

  • Research Area: Medical Genetics


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