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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease
Dolores Vilas1, Rubén Fernández-Santiago2,3,4, Elena Sanchez5
1Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.
Background:
Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not been reported.
Objective:
To describe a case of sporadic PD carrying a novel ACMSD mutation.
Methods:
As part of a genetic study to identify potential pathogenic gene defects related to PD in the Mediterranean island Menorca, an initial group of 62 PD patients underwent mutational screening using a panel-based sequencing approach.
Results:
We report a 74-years-old man with sporadic PD who developed tremor in his right hand and slowness. On examination, moderate rigidity, asymmetric bradykinesia, and bilateral action tremor were present. He was started on levodopa with significant improvement. Two years later, he developed wearing off phenomena. The genetic study in the patient identified a novel ACMSD mutation resulting in p.Glu298Lys amino-acid change which was not present in neurologically normal population.
Conclusions:
Our data suggest that not only common genetic variability but also rare variants in ACMSD alone or in combination with other risk factors might increase the risk of PD.
Insights
Rare ACMSD gene mutations may contribute to Parkinson's disease (PD) risk. This study identified a novel mutation in a sporadic PD patient, suggesting a role for rare variants in PD development.
Area of Science:
- Neurogenetics
- Molecular Neurology
Background:
- Common genetic variations in the ACMSD gene are linked to Parkinson's disease (PD) risk.
- However, no ACMSD mutations have been reported in clinical PD cases previously.
Observation:
- A 74-year-old man with sporadic Parkinson's disease presented with classic symptoms including tremor, bradykinesia, and rigidity.
- He showed significant initial response to levodopa, followed by wearing-off phenomena.
Findings:
- Genetic analysis revealed a novel ACMSD mutation (p.Glu298Lys) in the patient.
- This mutation was absent in the neurologically normal control population.
Implications:
- This case suggests that rare ACMSD variants, individually or with other factors, may increase Parkinson's disease susceptibility.
- Highlights the potential role of rare genetic variants in the etiology of sporadic PD.
