Objective: To evaluate the prevalence of non-motor symptoms in p.A53T SNCA-related PD patients as compared to sporadic PD (sPD) patients.

Background: p.A53T α-synuclein (SNCA) mutation carriers develop a severe but variable form of familial Parkinson’s disease (PD). 

Methods: Non-motor symptoms were assessed in N=18 p.A53T SNCA-related PD patients, who participated in the Parkinson’s Progression Markers Initiative (PPMI) by standardized questionnaires and validated scales (University of Pennsylvania Smell Identification Test [UPSIT], REM sleep questionnaire, Epworth sleepiness scale, SCOPA-AUT scale of autonomic dysfunction, Geriatric depression scale, PD Impulsive-Compulsive Disorders Questionnaire [QUIP]). The Montreal Cognitive Assessment (MoCA), the Hopkins Verbal learning test (HVLT), the Benton Judgement of Line Orientation test, the Letter Number Sequencing test (LNST), the Symbol digit Modalities test (SDMT) and semantic/phonemic verbal fluency assessment were administered.  Data from the PPMI database from 18 age-, gender-, disease duration- and education-matched sPD patients were compared to the p.A53T-patients.

Results: ‘’On’’ MDS-UPDRS-III score was not statistically different between the two groups. The dopamine equivalent dose was higher in the p.A53T-PD group (p=0.014) as was the  QUIP score (p=0.002).  There was a strong positive correlation between QUIP and Dopamine equivalent dose, which was statistically significant (r(s)=0.604, p=0.017). UPSIT score in p.A53T related-PD was lower (p=0.001) compared to sPD. The frequency of depression, REM sleep behavior disorder, daytime sleepiness in p.A53T SNCA-related PD and dysautonomic symptoms were not significantly different compared to sPD, with the exception of lightheadedness (p=0.037) and constipation (p=0.049) (more common in mutation carriers). The p.A53T-PD group presented lower scores in HVLT immediate recall (p=0.026), Benton test (p=0.001), LNST (p=0.002), SDMT (p=0.018) and semantic (p=0.043) or phonemic verbal fluency (p=0.002). No significant differences could be noted in the overall MoCa score, HVLT delayed recall and recognition.

Conclusions: The observed impairments in working memory, processing speed and visuospatial skills may reflect a selective cognitive dysregulation in PD patients carrying the p.A53T mutation as compared to sporadic PD patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/non-motor-features-of-p-a53t-%ce%b1-synuclein-mutation-carriers-compared-to-sporadic-parkinsons-disease-in-a-ppmi-cohort/