- •SMA-PME is rare inherited disease with bi-allelic mutations in the ASAH1 gene.
- •SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness.
- •A novel variant c.109C>T(p. Pro37Thr) was reported for SMA-PME in this study.
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- Spinal muscular atrophy summary GeneReview scope.GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022., 2020: 1-30
- Diseases of the motor unit.(Menkes, JH SH, editors)Child neurology. 6th ed. Philadelphia: Lippincott Williams and Wilkins, 2000: 1027-1092
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Orphanet J Rare Dis. 2017; 12: 124https://doi.org/10.1186/s13023-017-0671-8
- Spinal muscular atrophy associated with progressive myoclonus epilepsy.Epileptic Disord. 2016; 18: 128-134https://doi.org/10.1684/epd.2016.0858
- Acid ceramidase deficiency: farber disease and SMA-PME.Orphanet J Rare Dis. 2018; 13: 121https://doi.org/10.1186/s13023-018-0845-z
- Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.J Biol Chem. 1996; 271: 33110-33115https://doi.org/10.1074/jbc.271.51.33110
- Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1.Epilepsia. 2015; 56: 692-698https://doi.org/10.1111/epi.12977
- Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.Am J Hum Genet. 2012; 91: 5-14https://doi.org/10.1016/j.ajhg.2012.05.001
- Iranome: a catalog of genomic variations in the Iranian population.Hum Mutat. 2019; 40: 1968-1984https://doi.org/10.1002/humu.23880
- A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.Int Med Case Rep J. 2019; Volume 12: 155-159https://doi.org/10.2147/IMCRJ.S202046
- Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency.Pediatrics. 2016; 138https://doi.org/10.1542/peds.2016-1068
- Spinal muscular atrophy and Farber disease due to ASAH1 variants: a case report.Am J Med Genet Part A. 2020; 182: 2369-2371https://doi.org/10.1002/ajmg.a.61764
- Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.Clin Neurol Neurosurg. 2018; 164: 47-49https://doi.org/10.1016/j.clineuro.2017.11.008
- Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.J Med Life. 2021; 14: 424-428https://doi.org/10.25122/jml-2021-0147
- Spinal muscular atrophy and progressive myoclonic epilepsy: a rare association.J Neurosci Rural Pract. 2021; 12: 210-212https://doi.org/10.1055/s-0040-1721543
- ASAH1-related disorders.GeneReviewsⓇ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022., 2018 (Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors., Seattle (WA))
- ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.Eur J Hum Genet. 2016; 24: 1578-1583https://doi.org/10.1038/ejhg.2016.28
- Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates.Hum Gene Ther. 2011; 22: 679-687https://doi.org/10.1089/hum.2010.195
- Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).Bone Marrow Transpl. 2000; 26: 357-363https://doi.org/10.1038/sj.bmt.1702489
- AAV9 vector: a novel modality in gene therapy for spinal muscular atrophy.Gene Ther. 2019; 26: 287-295https://doi.org/10.1038/s41434-019-0085-4
- Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine.Cell Rep Med. 2021; 2100346https://doi.org/10.1016/j.xcrm.2021.100346