Distal hereditary motor neuropathy (dHMN): genetics

Genetics

• This is distal spinal muscular atrophy (dSMA)
• Genetic mutations have been identified in only 20% of cases
• These usually involve heat shock protein (HSP) genes
• The mutations result in degeneration of spinal cord motor neurons
• The transmission is autosomal recessive or dominant

Heat shock protein (HSP) genes

Other genes

References

1. Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet 2004; 13:R195-R202.
2. Gess B, Auer-Grumbach M, Schirmacher A, et al. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology 2014; 83:1726-1732. 
3. Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. JNNP 2012; 83:6-14.
4. Frasquet M, Chumillas MJ, Vílchez JJ, et al. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. JNNP 2016; 87:1265-1268.
5. Rafael M, Lacerda C, Goncalves E, Rocha S. Hereditary distal motor neuropathy due to mutation of BSCL2. Rev Neurol 2017; 64:45-47.
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Related checklists

• Distal hereditary motor neuropathy (dHMN): types
• Distal hereditary motor neuropathy (dHMN): clinical features