Gaucher disease (GD) is a recessively inherited lysosomal storage disorder caused by mutations in the glucocerebrosidase gene. Such mutations are also associated with the development of Parkinson’s disease (PD), placing GD patients and carriers (GC) at higher risk of developing PD. GD Type I (GD1) is considered non-neuronopathic, although reports exist of patients exhibiting neurological symptoms. Our study aims to investigate the cognitive profiles of GD1 and GC. 39 adult subjects (25 GD1; 14 GC) underwent a neuropsychological evaluation assessing six cognitive domains. Those with PD were excluded. Hierarchical clustering was performed resulting in three clusters: cluster 1 (n=20; average performers), cluster 2 (n=11; high average performers with average memory), and cluster 3 (n=8; average to low average performers with impaired memory). No significant differences were found between clusters on GD1 status, genotype, GD1 family history, or mood symptoms. For GC only, those in cluster 1 performed significantly better on the smell test (F=7.33, p=0.011). Three cognitive phenotypes of GD1 and GC were identified. Most subjects performed within normal limits, except for memory. Future analyses should employ larger sample sizes to further investigate these phenotypes. Longitudinal studies following changes in cognition over time may also help predict PD development.
|First Author||Lillian Ham|
|Second Author||Alicia Spiegel|
|Third Author||Edythe Wiggs|
|Fourth Author||Grisel Lopez|
|Fifth Author||Emory Ryan|
|Sixth Author||Ellen Sidransky|
|Seventh Author||Laura Segalà|