A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to P arkinson's disease

LRSAM1 mutations have been found in recessive and dominant forms of C harcot– M arie– T ooth disease. Within one generation of the original D utch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed P arkinson's disease between a...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2016-02, Vol.3 (2), p.146-149
Main Authors: Aerts, Marjolein B., Weterman, Marian A. J., Quadri, Marialuisa, Schelhaas, H. Jurgen, Bloem, Bastiaan R., Esselink, Rianne A., Baas, Frank, Bonifati, Vincenzo, van de Warrenburg, Bart P.
Format: Article
Language:English
Subjects:
Age
Autophagy
Legs
Mutation
Parkinson's disease
Proteins
Walking
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Summary:LRSAM1 mutations have been found in recessive and dominant forms of C harcot– M arie– T ooth disease. Within one generation of the original D utch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed P arkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late‐onset parkinsonism is part of the LRSAM 1 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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.281