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Fig. 1 | BMC Neurology

Fig. 1

From: Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Fig. 1

Pedigree, brain MRI and mutation sites of the patients. a Pedigree and the SPG7 mutations of the Chinese family. The proband (II-1) and another two siblings (II-3 and II-4) are compound heterozygous for both variants (c.1150_1150-1insCTAC and p.Arg688Ter) and were affected with HSP. The other immediate family members are either heterozygous for only one sequence variant (c.1150_1150-1insCTAC) or wild type, and all are asymptomatic. b Brain MRIs of the patients in 2016. Sagittal T1-weighted (b1, b3, b5) and transverse T2-weighted (b2, b4, b6) images showed mild cerebellar atrophy in II-1 (b1, b2) at age 54, in II-3 (b3, b4) at age 48 and in II-4 (b5, b6) at age 44. The corpus callosums of them were normal. c Electropherograms of a control with the SPG7 wild-type sequence (upper) and a patient with heterozygous mutations (lower). The mutation sites were indicated by red arrows. c1 Four bases insertion heterozygous mutation (c.1150_1150-1insCTAC). c2 Two adjacent sites single-base substitution variations in exon 15 resulted in a stop codon mutation (p.Arg688Ter)

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