Metachromatic leukodystrophy (MLD): pathology

Evidence-based neurology checklist on metachromatic leukodystrophy (mld): pathology: Genetic mutations Arylsulphatase (ARSA) Saposin B (PSAP) The transmission is autosomal recessive Types

Genetic mutations

  • Arylsulphatase (ARSA)
  • Saposin B (PSAP)
  • The transmission is autosomal recessive

Types

References

  1. Alves D, Pires MM, Guimaraes A, Miranda MC. Four cases of late onset metachromatic leucodystrophy in a family: clinical, biochemical and neuropathological studies. JNNP 1986; 49:1417-1422.
  2. Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M. Late onset MLD with normal nerve conduction associated weigh two novel missense mutations in the ASA gene. JNNP 2004; 75:655-657.
  3. Fenu S, Castellotti B, Farina L, et al. Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy. Neurology 2019; 93:310-312.
  4. Kolnikova M, Jungova P, Skopkova M, et al. Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene. J Mol Neurosci 2019; 67:559-563.
  5. Cesani M, Lorioli L, Grossi S, et al. Mutation Update of ARSA and PSAP genes causing metachromatic leukodystrophy. Hum Mutat 2016; 37:16-27. 
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