First SPG48 case report in India with a novel mutation

The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom difficulty in walking due to weakness and spasticity lower limbs. Spastic paraplegia-48 (SPG48) is an autosomal recessive disorder characterized by limbs resulting gait difficulties. Biallelic mutations AP5Z1 known cause this complex form paraplegia referred as SPG48 (MIM#613647). Most patients have onset mid- or late-adulthood, although childhood has been reported 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, mild cognitive impairment. We report 49-year-old male with novel mutation. This first case Indian patient best our knowledge mutation be worldwide.