Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

ABSTRACT:

Objective

To clinically, genetically, and radiologically characterize a large cohort of SPG7 patients.

Methods

We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in SPG7. We analyzed MRI. We reviewed all published SPG7 mutations for correlations.

Results

We identified 42 cases with biallelic SPG7 mutations, including 7 novel mutations, including a large multi-exon deletion, representing one of the largest cohorts so far described. We identified a characteristic phenotype comprising cerebellar ataxia with prominent cerebellar dysarthria, mild lower limb spasticity, and a waddling gait, predominantly from a c

SUBMITTER: Hewamadduma CA 

PROVIDER: S-EPMC6244025 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature