Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

ABSTRACT:

Background

Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish. Accurate genetic diagnosis is crucial but challenging, particularly in resource-limited settings. This study aims to investigate the genetic basis of HSPs and HCAs in Pakistani families.

Methods

Families from Khyber Pakhtunkhwa with at least two members showing HSP or HCA phenotypes, and who had not previously been analyzed genetically, were included. Families were referr

SUBMITTER: Azeem A 

PROVIDER: S-EPMC11414091 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature