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Lack of central and peripheral nervous system synuclein pathology in R1441G LRRK2-associated Parkinson’s disease

In idiopathic Parkinson’s disease (iPD) abundant alpha-synuclein (αSyn) aggregates are present in the central and peripheral autonomic nervous system (PANS). Detection of αSyn aggregates in the peripheral tissue has been suggested as a potential diagnostic marker of Parkinson’s disease (PD) in early and premotor stages.1 

The neuropathology of LRRK2 -associated PD ( LRRK2 -PD) is unexpectedly heterogeneous.2 In most G2019S mutation carriers αSyn loaded Lewy bodies and neurites can be found in the central nervous system (CNS). Some cases though lack the Lewy-type pathology and may show non-specific nigral degeneration. Prominent tau pathology can also be found. Information on neuropathological findings in cases of PD associated with other LRRK2 mutations is very limited, and we are not aware of reports describing the involvement of the PANS.

Here we describe postmortem central and peripheral neuropathological findings in a PD patient carrier of the R1441G mutation in the LRRK2 gene.

A 67-year-old man presented with gait instability and clumsiness in the right leg. At neurological examination, he had hypomimia, action tremor in the right hand, mild asymmetric bradykinesia and rigidity. He suffered from alcohol-related liver disease, diabetes mellitus and polyneuropathy. He had no hyposmia, depression, constipation, orthostatic hypotension, and urinary or erectile dysfunction. Levodopa was started with a good response. His daughter was diagnosed with PD at the age of 32. Genetic analysis revealed a heterozygous R1441G LRRK2 mutation in both of them. Over the following years the disease progressed slightly. At the age of 69 the …