Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases-Reference-Cited by-同舟云学术

Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases

Published:2023-03-24 Issue:7 Volume:44 Page:2551-2554
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Lorenzoni Paulo José^ORCID,Bayer Dafne Luana^ORCID,Ducci Renata Dal-Prá^ORCID,Fustes Otto Jesus Hernandez^ORCID,do Vale Pascoal Rodrigues Paula Raquel^ORCID,Werneck Lineu Cesar^ORCID,Kay Cláudia Suemi Kamoi^ORCID,Scola Rosana Herminia^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-023-06763-3.pdf

Reference6 articles.

1. Auer-Grumbach M (2008) Hereditary sensory neuropathy type I. Orphanet J Rare Dis 3:7. https://doi.org/10.1186/1750-1172-3-7

2. Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD et al (2021) Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med 27:1197–1204. https://doi.org/10.1038/s41591-021-01346-1

3. Rossi F, Bruno G, Fratta M, Colavito D, Casertano S, Sampaolo S et al (2020) Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct “S331 syndrome.” J Peripher Nerv Syst 25:308–311. https://doi.org/10.1111/jns.12394

4. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y et al (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurol 78:1236–1248. https://doi.org/10.1001/jamaneurol.2021.2598

5. Aur-Grumbach M, Bode H, Pieber TR, Scabhuttl M, Fischer D, Seidl R et al (2013) Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur J Med Genet 56:266–269. https://doi.org/10.1016/j.ejmg.2013.02.002

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1. Communicating pain: emerging axonal signaling in peripheral neuropathic pain;Frontiers in Neuroanatomy;2024-07-09

2. Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1);Genes;2024-05-26

3. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05