کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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5632947 | 1581259 | 2017 | 6 صفحه PDF | دانلود رایگان |
BackgroundEarly-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.MethodsWe evaluated a child with early-onset symptoms and performed a literature review for previously reported examples of children aged 18Â years or less with PINK1 gene defects.ResultsWe 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.ConclusionPINK1-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.
Journal: Pediatric Neurology - Volume 67, February 2017, Pages 102-106.e1