Ahmed Al-Rumayyan1, Christine Klein2, Majid Alfadhel3. 1. King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: rumayyana@ksau-hs.edu.sa. 2. Institute of Neurogenetics, University of Luebeck, Germany. 3. King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Abstract
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.
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.
Authors: Emanuele Camerucci; Cole D Stang; Mania Hajeb; Pierpaolo Turcano; Aidan F Mullan; Peter Martin; Owen A Ross; James H Bower; Michelle M Mielke; Rodolfo Savica Journal: J Parkinsons Dis Date: 2021 Impact factor: 5.520
Authors: Hui Shen; Rosa Anna M Marino; Ross A McDevitt; Guo-Hua Bi; Kai Chen; Graziella Madeo; Pin-Tse Lee; Ying Liang; Lindsay M De Biase; Tsung-Ping Su; Zheng-Xiong Xi; Antonello Bonci Journal: Proc Natl Acad Sci U S A Date: 2018-11-15 Impact factor: 11.205