Abstract
ObjectivesTo compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease.MethodsA retrospective study of genetic Parkinson's diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable binding was calculated for bilateral caudate and putamen for each case. The right:left asymmetry index and striatal asymmetry index was calculated.ResultsScans were available from 37 cases of monogenetic Parkinson's disease (7 glucocerebrosidase (GBA) mutations, 8 alpha-synuclein, 3 LRRK2, 7 PINK1, 12 Parkin). The asymmetry of radioligand uptake for Parkinson's disease with GBA or LRRK2 mutations was greater than that for Parkinson's disease with alpha synuclein, PINK1 or Parkin mutations.ConclusionsThe asymmetry of radioligand uptake in Parkinsons disease associated with GBA or LRRK2 mutations suggests that interactions with additional genetic or environmental factors may be associated with dopaminergic neuronal loss.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disorder worldwide with a prevalence of 1–2% in the population aged over 65 years [1]
The second most common genetic cause of PD is the G2019S mutation of LRRK2, which typically presents with late onset features resembling sporadic PD [4]
The frequency of LRRK2 G2019S in sporadic PD in Caucasians varies from 0.5–5% depending on population studied [1,4]
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disorder worldwide with a prevalence of 1–2% in the population aged over 65 years [1]. The second most common genetic cause of PD is the G2019S mutation of LRRK2, which typically presents with late onset features resembling sporadic PD [4]. The penetrance for development of PD varies greatly between these different genes; being 15% by age 80 for GBA [12], around 80% by age 80 for LRRK2 [4] and almost 100% for SNCA mutations [1,5]. This suggests that mutations in GBA or LRRK2 are not sufficient by themselves to cause symptomatic PDneurodegeneration and that interactions between GBA or LRRK2 protein and other genetic or environmental factors influence penetrance
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