Motor neurone disease (MND): other genetic risk factors
Evidence-based neurology checklist on motor neurone disease (mnd): other genetic risk factors: Juvenile MND gene mutations DDHD1 KIAA1840 (Spatacsin) ERLIN2 (ER lipid raft associated 2) SPTLC1 SPTLC2 ATXN2 gene mutations PFN1 gene mutations HFE (haemochromatosis) gene mutations Other gene…
Juvenile MND gene mutations
- DDHD1
- KIAA1840 (Spatacsin)
- ERLIN2 (ER lipid raft associated 2)
- SPTLC1
- SPTLC2
ATXN2 gene mutations
PFN1 gene mutations
HFE (haemochromatosis) gene mutations
Other gene mutations associated with MND
Micro-RNAs (miRNAs)
References
- Wu C, Fan D. A novel missense mutation of the DDHD1 gene associated with juvenile amyotrophic lateral sclerosis. Front Aging Neurosci 2016; 8:291.
- Orlacchio A, Babalini C, Borreca A, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010; 133:591-598.
- Al-Saif A, Bohlega S, Al-Mohanna F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol 2012; 72:510-516.
- Amador MD, Muratet F, Teyssou E, et al. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurol Genet 2019; 5:e374.
- Johnson JO, Chia R, Miller DE, et al. Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurol 2021; 78:1236-1248.
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