Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

ABSTRACT:

Objective

We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).

Methods

We analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically.

Results

Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05

SUBMITTER: Coarelli G 

PROVIDER: S-EPMC6556095 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature