Autosomal dominant spinal muscular atrophy (SMA)
Evidence-based neurology checklist on autosomal dominant spinal muscular atrophy (sma): Genetics This is caused by mutations in the TRPV4 and BICD2 genes There is an overlap with hereditary spastic paraplegia (HSP) The mutation results in early loss of lumbar and cervical anterior horn cells…
Genetics
- This is caused by mutations in the TRPV4 and BICD2 genes
- There is an overlap with hereditary spastic paraplegia (HSP)
- The mutation results in early loss of lumbar and cervical anterior horn cells
Muscle features
Skeletal features
Other features
References
- Oates EC, Reddel S, Rodriguez ML, et al. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012; 135:1714-1723.
- Rossor AM, Oates EC, Salter HK, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 2015; 138:293-310.
- Peeters K, Litvinenko I, Asselbergh B, et al. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013; 92:955-964.
- Oates EC, Rossor AM, Hafezparast M, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegic. Am J Human Genet 2013; 92:965-973.
- Rudnik-Schöneborn S, Deden F, Eggermann K, et al. Autosomal dominant spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations. Muscle Nerve 2016; 54:496-500.
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