BRIEF COMMUNICATION A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson’s disease
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چکیده
A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson’s disease Marjolein B. Aerts, Marian A. J. Weterman, Marialuisa Quadri, H. Jurgen Schelhaas, Bastiaan R. Bloem, Rianne A. Esselink, Frank Baas, Vincenzo Bonifati & Bart P. van de Warrenburg Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands Epilepsy Centre Kempenhaeghe, Heeze, The Netherlands
منابع مشابه
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.
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 par...
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Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) gene cause CMT2P. We describe the genotype/phenotype analysis of a family...
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Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. LRSAM1 is an ...
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Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
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BACKGROUND Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein lig...
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