Motor neurone disease (MND): multisystem proteinopathy
Evidence-based neurology checklist on motor neurone disease (mnd): multisystem proteinopathy: Genetic mutations VCP hnRNPA1 hnRNPA2B1 SQSTM1 MATR3 Clinical phenotypes
Genetic mutations
- VCP
- hnRNPA1
- hnRNPA2B1
- SQSTM1
- MATR3
Clinical phenotypes
References
- Taylor JP. Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. Neurology 2015; 85:658-660.
- Izumi R, Warita H, Niihori T, et al. Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurol Genet 2015; 1:e23.
- Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013; 495:467-473.
- Rea SL, Majcher V, Searle MS, Layfield R. SQSTM1 mutations-bridging Paget disease of bone and ALS/FTLD. Exp Cell Res 2014; 325:27-37.
- Rubino E, Rainero I, Chiò A, et al; TODEM Study Group. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012; 79:1556-1562.
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Related checklists
- C9orf72 variant motor neurone disease (MND): clinical features
- C9orf72 variant motor neurone disease (MND): investigations
- Flail arm syndrome (FAS) variant motor neurone disease (MND)
- Mills variant motor neurone disease (MND):
- Madras motor neuron disease (MMND)
- Paraneoplastic motor neurone disease (MND)
- Motor neurone disease (MND): FEWDON variant
- FUS variant motor neurone disease (MND)
- Motor neurone disease (MND): miscellaneous variants
