A NEW VARIANT IN HEREDITARY SPASTIC PARAPLEGIA TYPE 7 (SPG7): CASE REPORT

Abstract

Hereditary Spastic Paraplegia type 7 (SPG7) is a rare neurodegenerative disease clinically characterized by progressive weakness and spasticity, often underdiagnosed in cases with complicated phenotypes. This study aims to report the case of an adult patient living in the Amazon region, diagnosed with SPG7 after the exclusion of several etiologies. This is a descriptive and retrospective study based on medical record analysis. The patient presented symptom onset at 18 years of age with neuropsychiatric manifestations, progressing about 15 years later to paraparesis, spasms, and spastic gait. Electroneuromyography revealed motor axonal polyneuropathy. The definitive diagnosis was established via exome sequencing, which identified a homozygous pathogenic variant in the SPG7 gene (c.1740G>C - p.Leu580Phe). During clinical follow-up, the patient developed ataxia, dysarthria, and reliance on an assistive walking device, although maintaining strong resilience and socio-occupational engagement. The occurrence of painful anesthesia gave the case a unique character, possibly representing a previously undescribed phenotype. It is concluded that molecular analysis is essential to end the diagnostic uncertainty in cases of atypical progressive paraparesis and that multidisciplinary rehabilitation, associated with psychological resilience factors, acts as a crucial neuroprotective factor to preserve the patient's autonomy.