Cognitive impairment as a manifestation of SPG7: case report.
Fiorella S Guido, Michael R Basso, Ralitza H Gavrilova et al.
✦ AI-curated · Sources linked
Case in brief
A 42-year-old man with a 10-year history of dysarthria and 5 years of gait difficulties presented with cognitive symptoms over the last 3 years. Neuropsychological testing revealed significant deficits in information processing speed, mental flexibility, and visual-spatial perception. Genetic testing identified two pathogenic variants in the SPG7 gene, confirming a complex form of hereditary spastic paraplegia. The patient's cognitive impairments were thoroughly characterized, contributing to the understanding of SPG7.
What made this case unusual
This case highlights significant cognitive impairment in a patient with SPG7, including deficits in non-verbal intellect and insight, which have not been previously documented in the literature.
Diagnostic / clinical pearl
Clinicians should consider cognitive impairment as a potential manifestation of complex hereditary spastic paraplegia, particularly in patients with SPG7 mutations.
Why it matters
Understanding the cognitive aspects of SPG7 can aid in comprehensive patient management and improve awareness of the broader spectrum of symptoms associated with hereditary spastic paraplegia.