A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria

Gao, Chenyu; Huang, Ting; Chen, Rui; Yuan, Zhenhua; Tian, You‐Yong; Zhang, Yingdong

doi:10.3389/fneur.2020.582323

Cited by 3 publications

(1 citation statement)

References 36 publications

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“…Klein et al (2000) described an Italian family with PRKN deletions presenting as adult-onset tremor-dominant parkinsonism. Gao et al (2020) reported a Han Chinese family with PRKN mutation suffering from symmetrical resting tremor of lower limbs without rigidity.…”

Section: Autosomal Recessive Monogenic Parkinsonism Prkn (Parkin) Mut...mentioning

confidence: 99%

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson’s Disease: A Mini-Review

Chan

2022

Front. Aging Neurosci.

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Parkinson’s disease (PD) is a common neurodegenerative disease. At present, 5–10% of PD patients are found to have monogenic form of the disease. Each genetic mutation has its own unique clinical features and disease trajectory. It is unclear if the genetic background can affect the outcome of device-aided therapies in these patients. In general, monogenic PD patients have satisfactory motor outcome after receiving invasive therapies. However, their long-term outcome can vary with their genetic mutations. It appears that patients with leucine-rich repeat kinase-2 (LRRK2) and PRKN mutations tended to have good outcome following deep brain stimulation (DBS) surgery. However, those with Glucocerebrosidase (GBA) mutation were found to have poorer cognitive performance, especially after undergoing subthalamic nucleus DBS surgery. In this review, we will provide an overview of the outcomes of device-aided therapies in PD patients with different genetic mutations.

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Section: Autosomal Recessive Monogenic Parkinsonism Prkn (Parkin) Mut...mentioning

confidence: 99%

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson’s Disease: A Mini-Review

Chan

2022

Front. Aging Neurosci.

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A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review

Cai,

Wu,

Huang

et al. 2024

Front. Neurol.

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This study reported a case of early-onset parkinsonism associated with a novel variant of the PLA2G6 gene. The boy first started showing symptoms at the age of 11, with gait instability and frequent falls. As the disease progressed, his gait instability worsened, and he developed difficulties with swallowing and speaking, although there was no apparent decline in cognitive function. An MRI of the head revealed significant atrophy of the cerebellum. The initial diagnosis for the boy was early-onset parkinsonism, classified as Hoehn-Yahr grade 5.Genomic sequencing of the patient indicated that he had compound heterozygous variations in the PLA2G6 gene: c.1454G>A (p.Gly485Glu) and c.991G>T (p.Asp331Tyr). Pedigree analysis revealed that his younger brother also carried the same variant, albeit with milder symptoms. The patient's unaffected mother was found to be a carrier of the c.991G>T variant. Additionally, this study reviewed 62 unrelated families with PLA2G6 gene-related early-onset parkinsonism. The analysis showed a higher proportion of female probands, with a mean age of onset of ~23.0 years. Primary symptoms were predominantly bradykinesia and psychosis, with tremors being relatively rare. Cerebellar atrophy was observed in 41 patients (66.1%). Among the reported mutations, the most common mutation was c.991G>T, presenting in 21 families (33.9%), followed by c.2222G>A in eight families (12.9%). Other mutations were less common. Notably, the c.991G>T mutation was exclusive to Chinese families and was a prevalent mutation among this population. The initial symptoms varied significantly among patients with different mutations.

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Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature

Gao

Shi

et al. 2022

Front. Neurosci.

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BackgroundEarly onset Parkinson's disease (EOPD) is a neurodegenerative disease associated with the action ofto genetic factors. A mutated phospholipase A2 type VI gene (PLA2G6) is considered to be one of pathogenic genes involved in EOPD development. Although EOPD caused by a mutated PLA2G6 has been recorded in major databases, not all mutant genotypes have been reported. Here, we report a case of PLA2G6-related EOPD caused by a novel compound heterozygous mutation.Case presentationThe case was an of 26-year-old young male with a 2-year course of disease. The onset of the disease was insidious and developed gradually. The patient presented with unsteady walking, bradykinesia, unresponsiveness, and decreased facial expression. Auxiliary examination showed a compound heterozygous mutation of the PLA2G6gene with c.991G > T and c.1427 + 1G > A. Mild atrophy of the cerebrum and cerebellum was detected on brain MRI. The patient was diagnosed with EOPD. We administered treatment with Madopar, which was effective. After a two-year disease course, we observed progression to stage 5 according to the Hoehn-Yahr Scale (without medicine in the off-stage). An MDS-UPDRS III score of 62 was obtained, with characteristics of severe disease and rapid progress. The diagnosis was an EOPD phenotype caused by a combination of mutations at the c.991G > T and c.1427 + 1G > A sites of the PLA2G6gene.ConclusionAfter active treatment, the disease was set under control, with no significant progression during the three-month follow-up period. Dyskinesia did not recur after reducing the Madopar dose. The freezing sign was slightly decreased and the wearing-off was delayed to 2 h.

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A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria

Cited by 3 publications

References 36 publications

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson’s Disease: A Mini-Review

The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson’s Disease: A Mini-Review

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review

Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature

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