Objective: To identify premotor phase of Parkinson’s disease (PD) in obligate GBA heterozygous carriers.

Background: GBA mutation carriers are in greater risk of developing PD. Variety of symptoms can precede the classical motor features of PD and this period is considered to be premotor phase of PD. Presence of hyperechogenicity of substantia nigra (SN) using transcranial sonography (TCS) examination, is sign considered to be a risk marker for nigral injury which can be found in premotor phase of PD and is present in 90% of PD patients.

Methods: We identified 14 first deegree relatives of Gaucher disease (GD) patients who are obligate heterozygous carriers of GBA mutations. All participants were examined by a movement disorders specialist in order to identify signs of parkinsonism and were examined using transcranial sonography. DaT-SPECT was performed for those participants with subtle Parkinsonian signs and for those with positive TCS findings.

Results: We identified two participants (parents of GD patient) whose clinical and imaging findings were suggestive for premotor phase of PD. Father (55 years old) expressed hyposmia, REM-sleep behavior disorder, hypomimia, and mild bradykinesia of the left leg. Mother (51 year old) had only bradykinesia of the left extremities. TCS examination revealed mother to have hyperechogenic SN on the right (0.23 cm2, cut off 0.19 cm2), while father have left hyperechogenic SN (0.24 cm2). DaT-SPECT showed reduced striatal DAT binding in both parents. We followed up both parents for 3 years and we have not established PD diagnosis since clinical findings were unchanged.

Conclusions: We identified two GBA mutation carriers in premotor phase of PD, with subtle Parkinsonian signs and stabile clinical course in a follow up period of three years.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/premotor-phase-of-pd-in-two-gba-mutation-carriers/