Table 2.
LRRK2 | GBA1 | References | |
---|---|---|---|
Prevalence in PD | 0–39% | 5–20% | [9, 106, 157, 158] |
Male/female representation | Comparable | Males overrepresented | [58, 59, 159] |
Penetrance in PD | 17–85% | 10–30% | [9, 11, 160] |
Pathology | Less frequent LBs; More frequent AD‐like pathology. TDP‐43 deposits, ubiquitin‐positive inclusions and pure nigral degeneration have also been reported | Typical PD pathology, with LB deposition | [2, 39, 40, 41, 42] |
Clinical presentation | |||
Motor features | Comparable to iPD | Comparable to iPD, but faster motor progression, more frequent dysphagia, dyskinesia and motor fluctuations | [9, 43, 116, 117, 161] |
Cognitive decline | Less severe, later onset, dementia less frequent | More severe, earlier onset, faster progression, dementia more frequent | [9, 43, 116, 161] |
Psychiatric symptoms | Less frequent | More frequent | [53, 54, 55, 161] |
Autonomic symptoms | Less frequent | More frequent | [46, 48, 49, 55, 161] |
Hyposmia | Less frequent | More frequent | [9, 45, 55, 162] |
RBD | Less frequent | More frequent | [59, 162, 163] |
Longitudinal features | |||
Onset | Comparable to iPD or slightly earlier | Earlier | [9, 56, 159] |
Overall progression | Slower | Faster | [9, 164] |
AD, Alzheimer's disease; iPD, idiopathic Parkinson's Disease; LBs, Lewy bodies; PD, Parkinson's disease; PIGD, postural instability and gait disorders; Prevalence in PD, prevalence of LRRK2/GBA variant carriers in PD patients; RBD, REM sleep behavior disorder; TDP‐43, TAR DNA‐binding protein 43.