A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.

ABSTRACT:

Purpose

To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.

Observations

A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A targeted whole exome gene sequencing panel for optic neuropathy identified a novel homozygous variant in the SPG7 gene, c.2T > G, p.(Met?), which likely abolished production of paraplegin, an inner mitochondrial membrane protein. Subsequent neurologic examination revealed subtle signs of spastic paraplegia and ataxia in keeping with the genetic diagnosis of SPG7.

Conclusion and importance

Spastic paraplegia 7 (SPG7) is an autosomal recessive form of the neurodeg

SUBMITTER: Eriksen KO 

PROVIDER: S-EPMC8861420 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature