RTN2-gene associated spastic paraplegia in an indian patient with anterior horn cell involvement.

Hereditary spastic paraplegias (HSPs), also known as spastic paraplegias (SPGs) are a heterogeneous group of inherited neurodegenerative diseases in which the patients present with gradually progressive spasticity and weakness that predominantly tends to affect the lower limbs.[1] SPGs are classified by the phenotype (pure or complicated), the trait of inheritance, and the mutated gene.[1] SPG12 is a pure SPG-type due to RTN2 gene mutation which encodes the reticulon 2 protein.[2] We are reporting a 46-year-old female with RTN2 gene mutation, who presented with spastic quadriparesis and features suggestive of anterior horn cell involvement. Overall psychiatric symptoms are rare in HSP, and SPG4-HSP patients are more likely to be associated with underlying psychosis.[5] To conclude, our patient extends the RTN2-gene associated SPG12 and provides evidence for anterior horn cell involvement. [Extracted from the article]