Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

ABSTRACT:

Background and objectives

Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability.

Methods

A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed.

Results</

SUBMITTER: Rossi S 

PROVIDER: S-EPMC8969300 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature