Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation

ConclusionsLRRK2 mutations are the most common cause of monogenic Parkinson ’s disease (PD) and G2019S is the most frequent variant. Our patient presented with biological, clinical, and radiological features of MSA, but genetic testing revealed a G2019SLRRK2 mutation, which has been previously reported only in one other case of pathologically proven MSA but with mild progression. In our patient, post-mortem confirmation could not be performed, but RT-QuIC and immunohistochemical findings on skin biopsy support the diagnosis of MSA. G2019S LRRK2 may be linked to an increased risk of MSA. Cases of atypical parkinsonism with rapid disease course should be screened for PD-related genes especially in populations with a high prevalence of mutations in known genes.
Source: Neurological Sciences - Category: Neurology Source Type: research