Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
Summary
Our work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 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.
| Authors | Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X |
|---|---|
| Journal | Molecular diagnosis & therapy |
| Publication Date | 2019 Dec;23(6):781-789 |
| PubMed | 31630374 |
| DOI | 10.1007/s40291-019-00426-w |