Introduction:
Level of serotonin is mainly regulated by the serotonin reuptake transporter encoded by
SLC6A4
. The promoter region of
SLC6A4
bears a repeat polymorphism 5-HTTLPR and a single nucleotide polymorphism rs25531. We have previously studied the association between these two variants and sporadic PD. The objective of the current study was to determine whether the
SLC6A4
polymorphisms were associated with key motor and non-motor symptoms of PD.
Methods:
A total of 370 PD patients of Han Chinese were included. Associations between the
SLC6A4
polymorphisms and PD symptoms including depression, intellectual impairment, tremor and rigidity were analyzed.
Results:
5-HTTLPR was associated with depression in PD patients and presence of the LL genotype was protective against the depression risk. The rs25531 was associated with rest tremor in PD and the A allele serves as a recessive risk allele. No associations were found in the two polymorphisms with respect to intellectual impairment and rigidity in the cohort.
Conclusion:
The current study reveals two PD symptoms associated with
SLC6A4
polymorphisms, and provides new insight into how serotonergic system genetically participates in the symptomatic progression of PD. Further study is warranted in additional populations.
IntroductionBlepharospasm is uncommon in Parkinson's disease, especially in the peak-dose dyskinesia period.Case presentationWe herein present the case of a patient with PD who developed blepharospasm in the peak-dose dyskinesia period. The symptom was improved by taking amantadine.ConclusionThe current report expands the phenomenology of peak-dose dykinesia in PD to include dystonic blepharospasm. This complication of levodopa therapy may respond to amantadine despite the dystonic appearance of movements.
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