PLA2G6-Associated Neurodegeneration Case Report with Two Novel Mutations

Xiao-Tian Li published a clinical case report on figshare in 2026. The document describes a Chinese female patient with parkinsonism caused by two novel compound heterozygous mutations (c.313G>T and c.23T>A) in the PLA2G6 gene. The report details the patient's clinical presentation, response to therapy, and discusses the phenotypic complexity of PLA2G6-associated disorders.

Use Cases

• Analyzing genotype-phenotype correlations in PLA2G6-associated neurodegeneration based on the described novel mutations and clinical features.
• Studying the overlap between autosomal recessive early-onset Parkinson’s disease and dystonia-parkinsonism based on the case presentation.
• Reviewing clinical heterogeneity in neurodegenerative disorders based on the detailed patient history and literature review.

Strengths

• The dataset is a primary source describing two novel PLA2G6 gene mutations (c.313G>T and c.23T>A).
• The report includes detailed clinical observations, such as differential response to dopaminergic therapy in upper vs. lower body.

Limitations

• The dataset is a single case report (15.9 KB DOCX file), representing a limited sample size of one patient.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

Xiao-Tian Li

Collection Method

Clinical case study and literature review.

Freshness

Last updated 2026-05-04 05:33:16; freshness should be verified.

Geography

Patient is reported as Chinese.