Abstract:The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom of difficulty in walking due to weakness and spasticity in the lower limbs. Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Biallelic mutations in AP5Z1 are known to cause this complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647). Most patients have o… Show more
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