Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.

ABSTRACT

Pedigree chart of hereditary spastic paraplegia (HSP) patients and chromatogram of novel mutations. A. Pedigree chart of 12 Chinese HSP families with mutation. Squares indicate males; circles indicate females; the black symbols indicate affected individuals; arrows indicate the probands; and asterisks indicate the individual with mutation.B. Chromatogram of six novel mutations identified in our cohort. The upper panel in chromatogram depicts the reference sequence. The lower panel represents heterozygous mutated sequence.