Editorial
TFG: At the crossroads of motor neuron disease and myopathy
Stefan Nicolau MD,
Teerin Liewluck MD,
Stefan Nicolau MD
Department of Neurology, Mayo Clinic, Rochester, Minnesota
Search for more papers by this authorCorresponding Author
Teerin Liewluck MD
Department of Neurology, Mayo Clinic, Rochester, Minnesota
Correspondence
Teerin Liewluck, Department of Neurology, Mayo Clinic, Rochester, MN 55905.
Email: [email protected]
Search for more papers by this authorStefan Nicolau MD,
Teerin Liewluck MD,
Stefan Nicolau MD
Department of Neurology, Mayo Clinic, Rochester, Minnesota
Search for more papers by this authorCorresponding Author
Teerin Liewluck MD
Department of Neurology, Mayo Clinic, Rochester, Minnesota
Correspondence
Teerin Liewluck, Department of Neurology, Mayo Clinic, Rochester, MN 55905.
Email: [email protected]
Search for more papers by this authorCONFLICT OF INTEREST
None of the authors have any conflicts of interest to disclose.
REFERENCES
- 1Takashima H, Nakagawa M, Nakahara K, et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997; 41(6): 771-780.
- 2Madigan NN, Tracy JA, Litchy WJ, et al. A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy. Neurol Genet. 2018; 4(6):e287.
- 3Ishiura H, Sako W, Yoshida M, et al. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 2012; 91(2): 320-329.
- 4Fujita K, Yoshida M, Sako W, et al. Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 2011; 82(12): 1402-1403.
- 5Yamashita S, Kimura E, Zhang Z, et al. Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation. Muscle Nerve. Published online. August 26, 2019. https://doi.org/10.1002/mus.26683.
- 6Yagi T, Ito D, Suzuki N. Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system. Neurobiol Dis. 2014; 66: 83-91.
- 7Jongen PJ, Ter Laak HJ, Stadhouders AM. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul Disord. 1995; 5(1): 31-38.
- 8Jokela M, Huovinen S, Raheem O, et al. Distinct muscle biopsy findings in genetically defined adult-onset motor neuron disorders. PLoS One. 2016; 11(3):e0151376.
- 9Taylor JP. Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. Neurology. 2015; 85(8): 658-660.
- 10Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004; 36(4): 377-381.
- 11de Bot ST, Schelhaas HJ, Kamsteeg EJ, van de Warrenburg BP. Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain. 2012; 135: Pt 12):e223; author reply e224.
- 12Al-Obeidi E, Al-Tahan S, Surampalli A, et al. Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2018; 93(1): 119-125.
- 13Fecto F, Yan J, Vemula SP, et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2011; 68(11): 1440-1446.
- 14Bucelli RC, Arhzaouy K, Pestronk A, et al. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology. 2015; 85(8): 665-674.
- 15Niu Z, Pontifex CS, Berini S, et al. Myopathy with SQSTM1 and TIA1 variants: clinical and pathological features. Front Neurol. 2018; 9: 147.
- 16Le 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(11): 1403-1410.
- 17Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013; 495(7442): 467-473.
- 18Hackman P, Sarparanta J, Lehtinen S, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2013; 73(4): 500-509.
- 19Mackenzie IR, Nicholson AM, Sarkar M, et al. TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics. Neuron. 2017; 95(4): 808-816.
- 20Senderek J, Garvey SM, Krieger M, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet. 2009; 84(4): 511-518.
- 21Johnson JO, Pioro EP, Boehringer A, et al. Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014; 17(5): 664-666.
- 22Silva IAL, Conceicao N, Gagnon E, Brown JP, Cancela ML, Michou L. Molecular effect of an OPTN common variant associated to Paget's disease of bone. PLoS One. 2018; 13(5):e0197543.
Citing Literature
