AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia

被引：0

作者：

Sabbagh, Quentin ^{[1
]}

Poblete, Natalia Hernandez ^{[2
]}

Angelini, Chloe ^{[2
,3
]}

Hersent, Clement ^{[4
]}

Benkirane, Mehdi ^{[4
]}

Pointaux, Morgane ^{[4
]}

Larrieu, Lise ^{[4
]}

Castrioto, Anna ^{[5
]}

Deberge, Louise ^{[6
]}

Fluchere, Frederique ^{[7
]}

Ramond, Francis ^{[8
]}

Lesca, Gaetan ^{[9
]}

Koenig, Michel ^{[4
]}

Goizet, Cyril ^{[2
,3
]}

机构：

[1] Univ Montpellier, Ctr Hosp Univ Montpellier, Ctr Reference Anomalies Dev & Syndromes Malformat, Serv Genet Clin, Montpellier, France

[2] Univ Bordeaux, Ctr Hosp Univ Bordeaux, Ctr Reference Neurogenet, Serv Genet Med, Bordeaux, France

[3] Univ Bordeaux, Equipe NRGen, CNRS, INCIA,UMR5287, F-33000 Bordeaux, France

[4] Univ Montpellier, Ctr Hosp Univ Montpellier, Inst Univ Rech Clin, Lab Genet Mol, Montpellier, France

[5] Univ Grenoble Alpes, Grenoble Inst Neurosci, Ctr Hosp Univ Grenoble Alpes, Dept Neurol,Inserm,U1216, F-38000 Grenoble, France

[6] Univ Bordeaux, Ctr Hosp Univ Bordeaux, Serv Med Phys & de Readaptat, Bordeaux, France

[7] Aix Marseille Univ, AP HP, Serv Neurol & Mouvements Anormaux, Marseille, France

[8] Univ Jean Monnet, Ctr Hosp Univ St Etienne, Serv Genet Med, St Etienne, France

[9] Univ Claude Bernard Lyon 1, Hosp Civiles Lyon, Ctr Competence Neurogenet, Dept Genet Med, Lyon, France

来源：

JOURNAL OF NEUROLOGY | 2025年 / 272卷 / 02期

关键词：

COMPLEX; 4; DEFICIENCY; SPASTIC PARAPLEGIA; INTELLECTUAL DISABILITY; GENES;

D O I：

10.1007/s00415-025-12889-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：9

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