LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed Parkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late-onset parkinsonism is part of the LRSAM1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear.

Additional Metadata
Persistent URL dx.doi.org/10.1002/acn3.281, hdl.handle.net/1765/109440
Journal Annals of Clinical and Translational Neurology
Citation
Aerts, M.B. (Marjolein B.), Weterman, M.A.J, Quadri, M, Schelhaas, H.J, Bloem, B.R, Esselink, R.A. (Rianne A.), … van de Warrenburg, B. (2016). A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease. Annals of Clinical and Translational Neurology, 3(2), 146–149. doi:10.1002/acn3.281