Skip to main content
Fig. 1 | BMC Neurology

Fig. 1

From: A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports

Fig. 1

Imaging and genetic results of family 1. a Pedigree of SPG7 family 1. The proband is indicated by an arrow. b Axial and sagittal T2-weighted brain MRI showing cerebellar atrophy. c Sanger DNA sequencing chromatogram demonstrating the heterozygosity for the c.1150_1151insCTAC variant in the proband and her son. d Exon 1–3 deletion detected by NGS CapCNV analysis of proband. e Genetic analysis of hereditary spastic paraplegia using multiplex ligation-dependent probe amplification(MLPA) on the son of the proband showed no copy number abnormalities in the exons of the relevant genes. ( It is generally recognized that the fluorescence signal intensity between 0.7–1.3 is normal, that is, between the red line and the blue line.)

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us