SPATAX

Soutenez le Dr Chloé Angelini (INCIA, Bordeaux) pour participer à la course des Héros du 18 mai 2025 à Bordeaux-Mérignac (https://www.coursedesheros.com/bordeaux/) pour le compte de l'association Huntington France. C'est déductible des impôts. Chaque euro compte pour ce moment sportif et solidaire

https://www.alvarum.com/chloeangelini

La collecte de Chloé Angelini | Alvarum Je soutiens ASSOCIATION HUNTINGTON FRANCE qui fait un travail très important. J'ai décidé de collecter des fonds pour financer leurs actions. Pour m'aider, je vous suggère de faire un don à ASSOCIA...

Journée maladies rares nancy/gentilly 26 février

CHRU de Nancy - Journée Maladies Rares 2025 Site Internet du Centre Hospitalier Régional Universitaire de Nancy

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant by Morais et al

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant A novel homozygous variant in AIMP1 (c.223G>A) was identified in a Portuguese family with hereditary spastic paraplegia through linkage and whole-exome sequencing. Minigene assays showed that the var...

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants by Degoutin et al

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants Purpose Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticit...

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses by Laurie et al

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses - Nature Medicine This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data coupled with expert panel review, leading to 500 new diagnoses in a cohort of 6,000 families with suspected rare diseases.

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment by Toupenet et al

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment - Scientific Reports 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 form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies...