کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5632947 1581259 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical ObservationsEarly-Onset Parkinsonism: Case Report and Review of the Literature
ترجمه فارسی عنوان
مشاهدات بالینی بیماری پارکینسونیک: گزارش مورد و بررسی ادبیات
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

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 18 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 67, February 2017, Pages 102-106.e1
نویسندگان
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