Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia

ConclusionOur work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for aKIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP. Beyond underscoring the utility of using both MLPA and WES in studies of HSP, our work deepens the scientific understanding of phenotypes for ADHSP and defines new genetic variants to facilitate future diagnoses.

http://link.springer.com/10.1007/s40291-019-00426-w

Source: Molecular Diagnosis and Therapy - October 18, 2019 Category: Molecular Biology Source Type: research