ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.

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Title: ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.
Authors: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: mscala.md@gmail.com., Sahu RK; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA., Severino M; Neuroradiology Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Traverso M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Pedemonte M; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy., Santorelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Tozza S; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fiorillo C; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy., Chung HL; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA; Department of Neurology, Weill Cornell Medical College, New York, NY 10065, USA. Electronic address: hchung2@houstonmethodist.org.
Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100587. Date of Electronic Publication: 2026 Mar 10.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-2477
DOI:10.1016/j.xhgg.2026.100587