论文部分内容阅读
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegerative disorder involving both central nervous system and peripheral axons.The clinical picture is characterized by psychomotor regression and hypotonia which progress to spastic tetraplegia,visual impairment and dementia.The disease is progressive which leading to death usually before 10 years of age.The disease-causing mutations in PLA2G6 (located in 22q12-13) encoding phosphofipase A2 group Ⅵ (cytosolic,calcium-independent) were identified in 2006.Up till now,only two patients with INAD confirmed by neuropathology in our hospital have been reported in China.