Motor neurone disease (MND): other genetic risk factors
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Motor neurone disease (MND): other genetic risk factors. DDHD1, KIAA1840 (Spatacsin). Fully referenced neurology checklist.
Juvenile MND gene mutations
- DDHD1
- KIAA1840 (Spatacsin)
- ERLIN2 (ER lipid raft associated 2)
- SPTLC1
- SPTLC2
ATXN2 gene mutations
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PFN1 gene mutations
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HFE (haemochromatosis) gene mutations
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Other gene mutations associated with MND
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Micro-RNAs (miRNAs)
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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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