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ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
Filosto M, Aureli M, Castellotti B, Rinaldi F, Schiumarini D, Valsecchi M, Lualdi S, Mazzotti R, Pensato V, Rota S, Gellera C, Filocamo M, Padovani A. Filosto M, et al. Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30. Eur J Hum Genet. 2016. PMID: 27026573 Free PMC article.
ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal m …
ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) wit …
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS, Amintas S, Levade T, Medin JA. Yu FPS, et al. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. Orphanet J Rare Dis. 2018. PMID: 30029679 Free PMC article. Review.
Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy ( …
Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) an …
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS. Lee MM, et al. Ann Clin Transl Neurol. 2022 Dec;9(12):1941-1952. doi: 10.1002/acn3.51687. Epub 2022 Nov 3. Ann Clin Transl Neurol. 2022. PMID: 36325744 Free PMC article. Review.
OBJECTIVE: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and to determine if aberrant cellular ceramide accumulatio …
OBJECTIVE: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy …
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH. Karimzadeh P, et al. Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6. Neuromuscul Disord. 2022. PMID: 36309462 Review.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. ...The present study reports five patients from four differ …
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inhe …
Spinal muscular atrophy associated with progressive myoclonus epilepsy.
Topaloglu H, Melki J. Topaloglu H, et al. Epileptic Disord. 2016 Sep 1;18(S2):128-134. doi: 10.1684/epd.2016.0858. Epileptic Disord. 2016. PMID: 27647482 Review.
A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMA-PME …
A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to …
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
Najafi A, Tasharrofi B, Zandsalimi F, Rasulinezhad M, Ghahvechi Akbari M, Zamani G, Ashrafi MR, Heidari M. Najafi A, et al. Ital J Pediatr. 2023 Jun 6;49(1):64. doi: 10.1186/s13052-023-01474-z. Ital J Pediatr. 2023. PMID: 37280710 Free PMC article.
BACKGROUND: Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with pro …
BACKGROUND: Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of ca …
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA. Nagree MS, et al. Commun Biol. 2023 May 25;6(1):560. doi: 10.1038/s42003-023-04932-w. Commun Biol. 2023. PMID: 37231125 Free PMC article.
Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). We have previously reported FD-like phenotypes in mice h …
Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy …
ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.
Wander A, Meena AK, Ghangoriya PK, Chakrabarty B, Jauhari P, Gulati S. Wander A, et al. Indian J Pediatr. 2024 Dec;91(12):1274-1277. doi: 10.1007/s12098-023-04957-3. Epub 2023 Dec 11. Indian J Pediatr. 2024. PMID: 38079070
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from thre …
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare auto …
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
Kleynerman A, Rybova J, Faber ML, McKillop WM, Levade T, Medin JA. Kleynerman A, et al. Biomolecules. 2023 Feb 1;13(2):274. doi: 10.3390/biom13020274. Biomolecules. 2023. PMID: 36830643 Free PMC article. Review.
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations. ...We also disc …
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA- …
Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.
Rybova J, Sundararajan T, Kuchar L, Dlugi TA, Ruzicka P, McKillop WM, Medin JA. Rybova J, et al. Mol Ther. 2024 Oct 2;32(10):3402-3421. doi: 10.1016/j.ymthe.2024.08.004. Epub 2024 Aug 5. Mol Ther. 2024. PMID: 39108096 Free PMC article.
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare lysosomal storage disorders caused by deficient acid ceramidase (ACDase) activity. ...FD patients usually die in ch …
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA- …
33 results