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Updated: Jul 5, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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A novel ATP13A2 variant causing complicated hereditary spastic paraplegia
Fan Zhang1, Peng Liu2, Jiaxiang Li1
1Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, Zhejiang, China.
Summary
A novel ATP13A2 gene mutation caused hereditary spastic paraplegia (HSP) and parkinsonism in a patient. This finding expands the known spectrum of ATP13A2-related neurological disorders.
Area of Science:
- Genetics
- Neuroscience
Background:
- ATP13A2 gene mutations are linked to Parkinson's disease and hereditary spastic paraplegia (HSP).
- Biallelic mutations in ATP13A2 can cause Kufor-Rakeb syndrome and HSP.
Observation:
- A 46-year-old woman presented with spasticity, seizures, parkinsonism, and peripheral neuropathy.
- Neuroimaging revealed reduced dopamine transporter density in the putamen and caudate nucleus.
Findings:
- Whole genome sequencing identified a novel homozygous missense mutation (c.2780 T>C, p.Leu927Pro) in the ATP13A2 gene.
- Functional studies indicated reduced ATP13A2 expression and altered subcellular localization due to the mutation.
Implications:
- This case broadens the known genetic and phenotypic spectrum of ATP13A2-related HSP.
- Further research is necessary to understand the precise mechanisms linking ATP13A2 variants to HSP.
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