TY - JOUR
T1 - A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease
AU - Aerts, Marjolein B.
AU - Weterman, Marian A. J.
AU - Quadri, Marialuisa
AU - Schelhaas, H. Jurgen
AU - Bloem, Bastiaan R.
AU - Esselink, Rianne A.
AU - Baas, Frank
AU - Bonifati, Vincenzo
AU - van de Warrenburg, Bart P.
PY - 2016
Y1 - 2016
N2 - 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
AB - 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
U2 - https://doi.org/10.1002/acn3.281
DO - https://doi.org/10.1002/acn3.281
M3 - Article
C2 - 26900582
SN - 2328-9503
VL - 3
SP - 146
EP - 149
JO - Annals of clinical and translational neurology
JF - Annals of clinical and translational neurology
IS - 2
ER -