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Genomics Precision Diagnostic > Neurology Precision Panel > Parkinson and Early Onset Parkinson Disease Precision Panel

Parkinson and Early Onset Parkinson Disease Precision Panel

Parkinson Disease (PD) is one of the second-most common neurodegenerative disorder affecting 2-3% of the population >65 years of age. It has traditionally been considered a motor system disorders, now recognized to be a complex condition with diverse clinical features. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Parkinson Disease (PD) is one of the second-most common neurodegenerative disorder affecting 2-3% of the population >65 years of age. It has traditionally been considered a motor system disorders, now recognized to be a complex condition with diverse clinical features. It is characterized by neuronal dopaminergic loss in the substantia nigra, a region in the brain in charge of gross motor movements. The clinical hallmarks of Parkinson disease include slowing of movements (bradykinesia), pin-wheel rigidity, resting tremor and postural instability. The etiology of Parkinson Disease is still unclear, but it is hypothesized to be a combination of genetic and environmental factors. Although incidence increases rapidly over the age of 60 it can also have an early onset. Generally, these patients have more involuntary movements and a poorer prognosis.  

  • The Igenomix Parkinson and Early Onset Parkinson Disease Precision Panel can serve as an accurate and directed diagnostic tool as well as for a differential diagnosis of resting tremor ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

  • The Igenomix Parkinson and Early Onset Parkinson Disease Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations: 
    • Resting tremor 
    • Slowing of movements (bradykinesia) 
    • Family history of early onset PD 
    • Rigidity 
    • Postural instability 
    • Psychosis 
    • Mood disorders 
    • Sleep disturbances 
    • Fatigue 
    • Pain and sensory disturbances 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.    
  • Early initiation of treatment with a multidisciplinary team in the form of medical treatment to increase dopamine, nonpharmacologic treatment including education, support and neuroprotective benefits of exercise and nutrition as well of surgical care if needed.  
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
  • Improvement of delineation of genotype-phenotype correlation.  

Genes & Diseases

Methodology

References

See scientific referrals

Siitonen, A., Nalls, M. A., Hernández, D., Gibbs, J. R., Ding, J., Ylikotila, P., Edsall, C., Singleton, A., & Majamaa, K. (2017). Genetics of early-onset Parkinson’s disease in Finland: exome sequencing and genome-wide association study. Neurobiology of aging, 53, 195.e7–195.e10. https://doi.org/10.1016/j.neurobiolaging.2017.01.019 

Miller, D. B., & O’Callaghan, J. P. (2015). Biomarkers of Parkinson’s disease: present and future. Metabolism: clinical and experimental, 64(3 Suppl 1), S40–S46. https://doi.org/10.1016/j.metabol.2014.10.030 

Lang, A., & Lozano, A. (1998). Parkinson’s Disease. New England Journal Of Medicine, 339(15), 1044-1053. doi: 10.1056/nejm199810083391506 

Langston, J. (2006). The parkinson’s complex: Parkinsonism is just the tip of the iceberg. Annals Of Neurology, 59(4), 591-596. doi: 10.1002/ana.20834 

Pagano, G., Ferrara, N., Brooks, D., & Pavese, N. (2016). Age at onset and Parkinson disease phenotype. Neurology, 86(15), 1400-1407. doi: 10.1212/wnl.0000000000002461 

Ferguson, L. W., Rajput, A. H., & Rajput, A. (2016). Early-onset vs. Late-onset Parkinson’s disease: A Clinical-pathological Study. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 43(1), 113–119. https://doi.org/10.1017/cjn.2015.244 

Cristina, T. P., Pablo, M., Teresa, P. M., Lydia, V. D., Irene, A. R., Araceli, A. C., Inmaculada, B. B., Marta, B. T., Dolores, B. R., José, C. M., Rocío, G. R., José, G. P., Ismael, H. F., Silvia, J., Labrador, M. A., Lydia, L. M., Carlos, M. J., Posada, I. J., Ana, R. S., Cristina, R. H., … Gómez-Garre, P. (2020). A genetic analysis of a Spanish population with early onset Parkinson’s disease. PloS one, 15(9), e0238098. https://doi.org/10.1371/journal.pone.0238098 

 

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