SPATAX

21/03/2025

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

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...

23/01/2025

Journée maladies rares nancy/gentilly 26 février

Site Internet du Centre Hospitalier Régional Universitaire de Nancy

19/01/2025

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

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...

19/01/2025

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

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...

19/01/2025

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

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.

19/01/2025

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

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...

05/12/2024

13/12/2023

Surprising honoring: Our coordinator Holm Graessner received the 1st Martha and Wilfried Ensinger Award for Rare Diseases on 30 November!

The newly established Martha and Wilfried Ensinger Award for Rare Diseases honors the exceptional work and commitment in the field of rare diseases. It is endowed with 5.000€ and will be rewarded every 2 years. And the first one to receive this award is Holm Graessner, our coordinator and managing director of the Center for Rare Diseases – Congratulations, Holm!

18/07/2023

A documentary from a French patient with Huntington.

An epic 18.000-kilometer (11.200 mi) ride for Huntington's disease from Mexico to Patagonia. "The Present" is a 2023 adventure documentary featuring the stor...