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


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

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