| A rare pure hereditary spastic paraplegia characterized by spastic paraparesis and normal neuroimaging (no leukodystrophy or calcification in the brain). It is a slowly progressing disease in which patients present with varying degrees of toe-walking, frequent falls and a spastic gait, as well as increased tone or obvious spastic paralysis, weakness, and hyperreflexia of the lower limbs. Additional clinical features may include gross hematuria, fibrillation and atrophy of the tongue muscles, and upper limb involvement such as bilateral upper extremity weakness, hypotonia, and atrophy of the interosseous and thenar muscles in the hands. Chilblain lesions and intellectual disability are absent. |
