Multisystem proteinopathy: Intersecting genetics in muscle, bone, and brain degeneration

Neurology

Volumn 85, Issue 8, 2015, Pages 658-660

  Taylor, J Paul ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; MESSENGER RNA; RNA BINDING PROTEIN; TAR DNA BINDING PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; AUTOPHAGY; AUTOSOMAL DOMINANT INHERITANCE; BONE ATROPHY; BRAIN DEGENERATION; CLINICAL FEATURE; DEMENTIA; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EDITORIAL; EXOME; GENE MUTATION; HOMEOSTASIS; HUMAN; MODIFIER GENE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOTONEURON; MOTOR NEURON DISEASE; MULTISYSTEM PROTEINOPATHY; MUSCLE ATROPHY; MYOPATHY; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RNA METABOLISM; CELL VACUOLE; DISTAL MYOPATHY; GENETICS; MALE; PATHOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; DISTAL MYOPATHIES; HUMANS; MALE; VACUOLES;

EID: 84940029424     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001862     Document Type: Editorial

References (33)

1. Tucker WS Jr, Hubbard WH, Stryker TD, et al. A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. Trans Assoc Am Physicians 1982;95:126-134.
2. Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2000;2:232-241.
3. Mehta SG, Khare M, Ramani R, et al. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet 2013;83:422-431.
4. Majounie E, Traynor BJ, Chio A, et al. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging 2012;33:209.e1-209.e2.
5. Gonzalez MA, Feely SM, Speziani F, et al. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain 2014;137:2897-2902.
6. Surampalli A, Gold BT, Smith C, et al. A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation. Neuromuscul Disord 2015;25:177-183.
7. Benatar M, Wuu J, Fernandez C, et al. Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology 2013;80:1874-1880.
8. Pinkus JL, Amato AA, Taylor JP, Greenberg SA. Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositis. Neuromuscul Disord 2014;24:611-616.
9. Weihl CC, Temiz P, Miller SE, et al. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. J Neurol Neurosurg Psychiatry 2008;79: 1186-1189.
10. Salajegheh M, Pinkus JL, Taylor JP, et al. Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve 2009;40:19-31.
11. Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosincontaining protein. Nat Genet 2004;36:377-381.
12. Le Ber I, Van Bortel I, Nicolas G, et al. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. Neurobiol Aging 2014;35:934.e5-934.e6.
13. 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.
14. Koppers M, van Blitterswijk MM, Vlam L, et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:837.e7-837.e13.
15. Cirulli ET, Lasseigne BN, Petrovski S, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 2015;347:1436-1441.
16. Bucelli RC, Arhzaouy K, Pestronk A, et al. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology 2015;85:665-674.
17. Hocking LJ, Lucas GJ, Daroszewska A, et al. Domainspecific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet 2002;11:2735-2739.
18. Fecto F, Yan J, Vemula SP, et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 2011;68:1440-1446.
19. Le Ber I, Camuzat A, Guerreiro R, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 2013;70:1403-1410.
20. Senderek J, Garvey SM, Krieger M, et al. Autosomaldominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet 2009;84:511-518.
21. Johnson JO, Pioro EP, Boehringer A, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 2014;17:664-666.
22. Lin KP, Tsai PC, Liao YC, et al. Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2015;36:e1-e4.
23. Vieira NM, Naslavsky MS, Licinio L, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 2014;23:4103-4110.
24. Hackman P, Sarparanta J, Lehtinen S, et al. Welander distal myopathy is caused by a mutation in the RNAbinding protein TIA1. Ann Neurol 2013;73:500-509.
25. Ramaswami M, Taylor JP, Parker R. Altered ribostasis: RNA-protein granules in degenerative disorders. Cell 2013;154:727-736.
26. Tresse E, Salomons FA, Vesa J, et al. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy 2010;6:217-227.
27. Buchan JR, Kolaitis RM, Taylor JP, Parker R. Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function. Cell 2013;153:1461-1474.
28. Pankiv S, Clausen TH, Lamark T, et al. p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem 2007;282:24131-24145.
29. Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465: 223-226.
30. Korac J, Schaeffer V, Kovacevic I, et al. Ubiquitinindependent function of optineurin in autophagic clearance of protein aggregates. J Cell Sci 2013;126:580-592.
31. Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adultonset ALS and ALS/dementia. Nature 2011;477: 211-215.
32. Majcher V, Goode A, James V, Layfield R. Autophagy receptor defects and ALS-FTLD. Mol Cell Neurosci 2015;66:43-52.
33. Michou L, Conceicao N, Morissette J, et al. Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. Bone 2012;51: 720-728.