Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

doi:10.1007/s10048-020-00633-2

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Article

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Neurogenetics - 1 Mar 2021

Méreaux Jean-Loup, Firanescu Cristina, Coarelli Giulia, Kvarnung Malin, Rodrigues Rita, Pegoraro Elena, Tazir Meriem, Taithe Frédéric, Valter Rémi, Huin Vincent, Lidström Kristina, Banneau Guillaume, Morais Sara, Parodi Livia, Coutelier Marie, Papin Mélanie, Svenningsson Per, Azulay Jean-Philippe, Alonso Isabel, Nilsson Daniel, Brice Alexis, Le Guern Eric, Press Rayomand, Vazza Giovanni, Loureiro José Leal, Goizet Cyril, Durr Alexandra, Paucar Martin, Stevanin Giovanni

Abstract excerpt

Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clinical characteristics from two European university hospitals (Paris...

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PMID: 33486633
DOI: 10.1007/s10048-020-00633-2
PMCID: PMC7997841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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