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Childhood-onset hereditary spastic paraplegia and its treatable mimics

Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcom...

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Hauptverfasser: Ebrahimi-Fakhari, Darius (VerfasserIn) , Saffari, Afshin (VerfasserIn) , Pearl, Phillip L. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 8 December 2022
In: Molecular genetics and metabolism
Year: 2022, Jahrgang: 137, Heft: 4, Pages: 436-444
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.06.006
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2021.06.006
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719221007356
Volltext
Verfasserangaben:Darius Ebrahimi-Fakhari, Afshin Saffari, Phillip L. Pearl
Beschreibung
Zusammenfassung:Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical testing, neuroimaging, and increasingly next-generation sequencing-based molecular testing. In this short review, we summarize the clinical and molecular understanding of: 1) childhood-onset and complex forms of hereditary spastic paraplegia (SPG5, SPG7, SPG11, SPG15, SPG35, SPG47, SPG48, SPG50, SPG51, SPG52) and, 2) the most common inborn errors of metabolism that present with phenotypes that resemble hereditary spastic paraplegia.
Beschreibung:Online verfügbar 24 Juni 2021, Artikelversion 8 Dezember 2022
Gesehen am 20.01.2023
Beschreibung:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.06.006

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