Published in:
01-12-2020 | Spastic Paraplegia | Letter to the Editor
Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family
Published in: Acta Neurologica Belgica | Issue 6/2020
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Hereditary spastic paraplegia 7 (SPG7) is one of the rare subtypes of autosomal recessive hereditary spastic paraplegia, which has heterogeneous phenotypes, varying from spastic paraplegia to ataxia [1]. SPG7 is the causative gene, which encodes PARAPLEGIN, a mitochondrial metalloprotease localized at the inner mitochondrial membrane [2]. Here we report a Chinese SPG7 family (Fig. 1a) with a novel SPG7 homozygous mutation, in which the patients presented with progressive spasticity, weakness of lower extremities, and ataxia.
Fig. 1
a Pedigree of the SPG7 family. The proband is indicated by an arrow. b, c Axial and sagittal T2-weighted brain MRIs showing cerebellar atrophy. d Sanger DNA sequencing chromatogram demonstrates the homozygosity for the c.1904C>T mutation in proband and heterozygosity in parents. e–g Quaternary structure of the SPG7 protein predicted by SWISS-MODEL server. The structure of mutant SPG7 protein (g) has changed compared with wildtype (f)
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