Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

doi:10.1007/s10048-022-00695-4

Article

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Neurogenetics - 1 Oct 2022

Hocquel Armand, Ravel Jean-Marie, Lambert Laetitia, Bonnet Céline, Banneau Guillaume, Kol Bophara, Tissier Laurène, Hopes Lucie, Meyer Mylène, Dillier Céline, Michaud Maud, Lardin Arnaud, Kaminsky Anne-Laure, Schmitt Emmanuelle, Liao Liang, Zhu François, Myriam Bronner, Bossenmeyer-Pourié Carine, Verger Antoine, Renaud Mathilde

Abstract excerpt

ATL1-related spastic paraplegia SPG3A is a pure form of hereditary spastic paraplegia. Rare complex phenotypes have been described, but few data concerning cognitive evaluation or molecular imaging of these patients are available. We relate a retrospective collection of patients with SPG3A from the Neurology Department of Nancy University Hospital, France. For each patient were carried out a 18F-FDG PET (positron...

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Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

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