- •Tank-binding kinase 1 is a causal gene for familial Amyotrophic Lateral Sclerosis.
- •Phenotypes associated with Tank-binding kinase 1 mutations are heterogeneous.
- •Primary lateral sclerosis is a rare form of motor neuron disorder.
- •Tank-binding kinase 1 should be tested also in Primary lateral sclerosis phenotype with family history.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- ZS and LH van den B. Amyotrophic lateral sclerosis.Nat. Rev. Dis. Prim. 2017; 3 (17071): 351-360https://doi.org/10.1038/nrdp.2017.71
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Science. 2015; 347 (80-): 1436-1441https://doi.org/10.1126/science.aaa3650
- TBK1: a new player in ALS linking autophagy and neuroinflammation.Mol Brain. 2017; 10: 5https://doi.org/10.1186/s13041-017-0287-x
- Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis.Neurol. Sci. 2018; 39: 811-820https://doi.org/10.1007/s10072-018-3246-0
- Association of mutations in TBK1 with sporadic and familial amyotrophic lateral sclerosis and frontotemporal dementia.JAMA Neurol. 2017; 74: 110-113https://doi.org/10.1001/jamaneurol.2016.3712
- Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.Nat. Neurosci. 2015; 18: 631-636https://doi.org/10.1038/nn.4000
- TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterization.J. Neurol. Neurosurg. Psychiatry. 2017; 88: 869-875https://doi.org/10.1136/jnnp-2017-316174
- Comprehensive analysis of the mutation spectrum in 301 German ALS families.J. Neurol. Neurosurg. Psychiatry. 2018; 89: 817-827https://doi.org/10.1136/jnnp-2017-317611
- Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Brain. 2016; 139: 452-467https://doi.org/10.1093/brain/awv358
- Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.Neurobiol. Aging. 2018; 62: 244.e9-244.e13https://doi.org/10.1016/j.neurobiolaging.2017.10.010
- Electrodiagnostic criteria for diagnosis of ALS.Clin. Neurophysiol. 2008; 119: 497-503https://doi.org/10.1016/j.clinph.2007.09.143
- Primary lateral sclerosis.Neurol. Clin. 2015; 33: 749-760https://doi.org/10.1016/j.ncl.2015.07.007
- Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.J. Neurol. Neurosurg. Psychiatry. 2017; 88: 996-997https://doi.org/10.1136/jnnp-2016-315250