Research Article

Prevalence of Fabry Disease among Patients with Parkinson’s Disease

Table 2

Detailed clinical characteristics of PD patients harbouring the p.(Asp313Tyr) variant.

GLA variantOriginFamily historyAgeGenderAge of onsetPD subtypeFallsFreezingTremorMDS-UPDRS part III ONHY stageMotor fluctuationsNMSCognitionInitial motor featuresProdromal featuresCurrent medication

p.(Asp313Tyr)Slovak (ES)68F56PIGD++354Wearing off, PoD dyskinInsomnia, fatigue, daytime sleepiness, frequent Urination, nocturia, constipation, depression, apathy, anxious mood, vertigo-dizziness,MoCA 29/30, PD-CRS
99/134
Balance problems, left-side bradykinesia, and rigiditySmell loss, sweatingLCIG 4,2 ml/per hour
p.(Asp313Tyr)Slovak (VA)66F61Mixed+131PoD dyskinesia, wearing offUrine urgency, nykturia, fatigue, mild anxious mood, mild hyposmiaMoCA 27/30, PD-CRS 94/134Pain and tremor of the left handFatigue, constipation, sweating, urine urgency, anxietyL/C 200 mg/D
p.(Asp313Tyr)Slovak (AS)75F69Mixed+202PoD dyskinesiaDaytime sleepiness, fatigue, urine urgencyMoCA 25/30, PD-CRS
62/134
Tremor of the right handSmell loss, excessive sweatingL/C 875 mg/D
PPX 1,57 
mg/D
p.(Asp313Tyr)Slovak (HR)70F60Mixed++322PoD dyskinesia,
wearing off
Urine urgency, depression, anxious mood, chronic pain of lower limbsMoCA 21/30Tremor of the right handSweating, urine urgencyL/C 500 mg/D
rasagilin 1 mg/D

Y, years; PD, Parkinson’s disease; MDS-UPDRS, Movement Disorder Society-Unified Parkinson’s Disease Rating Scale; HY, Hoehn and Yahr; NMS, nonmotor symptoms; F, female; M, male; PIGD, postural instability gait disorder; PoD, peak-of-dose; MoCA, Montreal Cognitive Assessment; L/C, levodopa/carbidopa; PPX, pramipexole; PD-CRS, and Parkinson’s disease cognitive rating scale.