SPATAX

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.