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Article

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.

Annals of clinical and translational neurology - 1 Apr 2022

Alecu Julian E, Saffari Afshin, Jumo Hellen, Ziegler Marvin, Strelko Oleksandr, Brownstein Catherine A, Gonzalez-Heydrich Joseph, Rodan Lance H, Gorman Mark P, Sahin Mustafa, Ebrahimi-Fakhari Darius

Abstract excerpt

CAPN1-associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain-1 function. Here we illustrate a translational approach to the case of an 18-year-old patient who first presented with psychiatric symptoms followed by spastic gait, intention tremor, and neurogenic bladder dysfunction, consistent with a complex form of HSP. Exome sequencing showed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35297214
DOI: 10.1002/acn3.51531
PMCID: PMC8994985

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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