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Article

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.

Clinical genetics - 1 Mar 2022

Miyake Noriko, Silva Sebastián, Troncoso Mónica, Okamoto Nobuhiko, Andachi Yoshiki, Kato Mitsuhiro, Iwabuchi Chisato, Hirose Mio, Fujita Atsushi, Uchiyama Yuri, Matsumoto Naomichi

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity predominantly affecting the lower limbs. Complex HSP is a subset of HSP presenting with additional neuronal and/or non-neuronal phenotypes. Here, we identify a homozygous ABHD16A nonsense variant in two affected children in a Chilean family. Very recently, two...

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PMID: 34866177
DOI: 10.1111/cge.14097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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