Abstract
Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.
Highlights
Parkinson’s disease (PD) is the second most frequent neurodegenerative disease after Alzheimer’s disease [1]
Parkinsonism, the core clinical feature of PD, is defined as slowly progressive bradykinesia combined with rest tremor or rigidity [2]. e etiology of PD remains enigmatic, while environmental and genetic factors are thought to be involved in [3]
23 disease-causing loci and 19 genes have been identified for PD and recorded in the Online Mendelian Inheritance in Man (OMIM) [4]
Summary
Parkinson’s disease (PD) is the second most frequent neurodegenerative disease after Alzheimer’s disease [1]. EOPD’s primary genetic type is autosomal recessive juvenile parkinsonism (AR-JP, OMIM 600116) caused by homozygous or compound heterozygous mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN) [6]. It has parkinsonism symptoms, but may be a different disease entity from late-onset sporadic PD. Is study reports on new compound heterozygous variants in the PRKN gene in a family with EOPD (Figure 1). Is finding expands the PRKN-associated PD genetic spectrum and may provide new insights into parkin protein structures and functions
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