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

Background: p.A53T SNCA-mutation carriers develop familial PD. Whether sPD and A53T SNCA mutation-related PD might differ clinically has not been extensively studied.

Methods: The presence of non-motor symptoms was assessed in 15 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 [GDS]). The Montreal Cognitive Assessment (MoCA), the Hopkins Verbal learning test (HVLT), the Benton Judgement of Line Orientation test, the Letter Number Sequencing test (LNST) and the Symbol digit Modalities test (SDMT) were administered. Semantic and phonemic verbal fluency were assessed. Data from the PPMI database from 15 sPD patients, matched for age and gender, were used to compare p.A53T-related PD to sPD. For normally and non-normally distributed scores statistical significance was assessed with ANCOVA and ordinal regression respectively; both were adjusted for PD duration.

Results: Motor function as assessed by ”On” MDS-UPDRS-III score and the frequency of dysautonomic symptoms, depression, REM sleep behavior disorder and daytime sleepiness in p.A53T SNCA-related PD were not significantly different from those in sPD. UPSIT scores in p.A53T related-PD were lower than those in sPD. Concerning cognitive symptoms, the p.A53T-PD group presented lower scores in HVLT immediate and delayed recall, Benton test, LNST and SDMT. No significant differences could be noted in the overall MoCA score, HVLT delayed recognition and semantic or phonemic verbal fluency.

Conclusions: Mood, dysautonomic and sleep disturbances occur as frequently in patients with p.A53T related-PD as in sPD but smell loss was encountered more frequently in p.A53T-PD. The observed impairments in working memory, processing speed, visuospatial skills and the recall of verbal information 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-symptoms-in-a-ppmi-cohort-of-p-a53t-synuclein-mutation-related-and-sporadic-parkinsons-disease-patients/