Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders, BMC Med 2026
Estiar et al, BMC Med 2026 Abstract Background: Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also in
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders, BMC Med 2026
Estiar et al, BMC Med 2026 Abstract Background: Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also in
Paraplégie spastique héréditaire de type SPG11 : des pistes thérapeutiques, G Stevanin & A Cordovado, Med Sciences 2025
Etat des lieux sur la paraplégie spastique de type SPG11
Paraplégie spastique héréditaire de type SPG11 : des pistes thérapeutiques, G Stevanin & A Cordovado, Med Sciences 2025
Etat des lieux sur la paraplégie spastique de type SPG11
Diagnosis of a series of Algerian patients with hereditary spastic paraplegias, By Messaoud et al, Neurogenet 2025
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases that include more than 90 genetic forms. The diagnosis of HSPs is challenging owing to their exceptional clinical and genetic heterogeneity. Using whole exome sequencing (WES), we investigated the
Diagnosis of a series of Algerian patients with hereditary spastic paraplegias, By Messaoud et al, Neurogenet 2025
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases that include more than 90 genetic forms. The diagnosis of HSPs is challenging owing to their exceptional clinical and genetic heterogeneity. Using whole exome sequencing (WES), we investigated the
Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment
Liriopé Toupenet Marchesi, Daniel Stockholm, Typhaine Esteves, Marion Leblanc, Nicolas Auger, Julien Branchu, Khalid Hamid El Hachimi & Giovanni Stevanin: Scientific report 2025 Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex
Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment
Liriopé Toupenet Marchesi, Daniel Stockholm, Typhaine Esteves, Marion Leblanc, Nicolas Auger, Julien Branchu, Khalid Hamid El Hachimi & Giovanni Stevanin: Scientific report 2025 Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Laurie et al, Nature Medicine 2025 Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Laurie et al, Nature Medicine 2025 Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant
by Sara Morais, José Leal Loureiro, Eva Brandão, Jorge Sequeiros, Giovanni Stevanin, Mariana Santos, Clinical Genetics 2025 ABSTRACT Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant
by Sara Morais, José Leal Loureiro, Eva Brandão, Jorge Sequeiros, Giovanni Stevanin, Mariana Santos, Clinical Genetics 2025 ABSTRACT Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with
Biallelic variants in SPAST / SPG4 increases its phenotypic spectrum
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah-Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan-Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud-Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud-Bataille, Giovanni Stevanin, Cyril Goizet
Biallelic variants in SPAST / SPG4 increases its phenotypic spectrum
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah-Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan-Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud-Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud-Bataille, Giovanni Stevanin, Cyril Goizet
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses by Ung et al, Mol Psy 2024
Dévina C. Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp & Frédéric Laumonnier; Mol Psy 2024 Background Intellectual disability (ID) and spastic paraplegia (SPG) are clinically
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses by Ung et al, Mol Psy 2024
Dévina C. Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp & Frédéric Laumonnier; Mol Psy 2024 Background Intellectual disability (ID) and spastic paraplegia (SPG) are clinically
The EPHE Neurogenetics Team 