ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

doi:10.1016/j.ajhg.2021.09.005

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Article

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

American journal of human genetics - 7 Oct 2021

Lemire Gabrielle, Ito Yoko A, Marshall Aren E, Chrestian Nicolas, Stanley Valentina, Brady Lauren, Tarnopolsky Mark, Curry Cynthia J, Hartley Taila, Mears Wendy, Derksen Alexa, Rioux Nadie, Laflamme Nataly, Hutchison Harrol T, Pais Lynn S, Zaki Maha S, Sultan Tipu, Dane Adrie D, Gleeson Joseph G, Vaz Frédéric M, Kernohan Kristin D, Bernard Geneviève, Boycott Kym M

Abstract excerpt

ABHD16A (abhydrolase domain-containing protein 16A, phospholipase) encodes the major phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine, an important signaling lipid that functions in the mammalian central nervous system. ABHD16A has not yet been associated with a human disease. In this report, we present a cohort of 11 affected individuals from six unrelated families with a...

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Identifiers

PMID: 34587489
DOI: 10.1016/j.ajhg.2021.09.005
PMCID: PMC8546048

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