Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease.

ABSTRACT:

Objectives

To describe clinical and genetic findings in 2 siblings with slowly progressive ataxia.

Methods

We studied 2 adult siblings through detailed physical and instrumental examinations. Whole-exome sequencing was used to identify an underlying genetic cause.

Results

Both siblings presented with adolescence-onset ataxia, progressive sensorimotor polyneuropathy, and preserved cognition over time. The onset of symptoms was between 10 and 14 years of age. A brain MRI demonstrated mild cerebellar atrophy in the older brother at age 45 years. Exome sequencing revealed compound heterozygous loss-of-function variants c.2269del (p.(Thr757GlnfsTer10)) and c.2275_2276del (p.(Leu759AlafsTer4)) in PNPLA8. The novel variant c.2269del results in frameshift with a premat

SUBMITTER: Burnyte B 

PROVIDER: S-EPMC10088641 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature