To study clinical and genetic profile of hereditary spastic paraplegia patients.

Hereditary spastic paraplegias (HSPs) are a myriad of monogenic neurodegenerative defects aiding corticospinal and dorsal spinal cord axonal atrophy, with a prevalence between 0.5 and 5.3 per 100,000 individuals in the World.

This cross sec?onal observa?onal study took place in Ins?tute of Medical Sciences, Banaras Hindu University, Varanasi from September 2022 to June 2024. Par?cipants included individuals who had gene?c HSP. There were 162 pa?ents screened and 15 pa?ents enrolled.

The primary analysis popula?on included 15 pa?ents with a mean age of 25.8

years and 9 individuals were males. Majority of individuals (66.7%) belonged to lower

middle socio-economic striata. The majority of the patients had an age of onset before the

age of 10 years (73.3%), with duration of illness of < 10 years (60.0%). The majority of the

patients were in wheelchairs (46.7%) at the time of diagnosis. Majority of them were

diagnosed with HSP 8 (46.7%). 8 out of 15 patients had VUS. In HSP 5, all four patients

(100%) had mutations in the KIF5A gene. In HSP 7, 50% of patients (2 out of 8) had

mutations in the KIFSA gene. In HSP 8, all three patients (100%) had mutations in the

WASHC5 gene.

HSP is often not a life-threatening condition; nonetheless, it may lead to significant disability as seen in the present study. Therefore, precise genetic diagnosis, genetic counselling, and symptom treatment are crucial for enhancing care for patients with HSP and their families.