BACKGROUND: PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families. METHODS: Direct sequencing analysis of the PLA2G6 gene. RESULTS: Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree. The identical mutation was previously observed in a patient affected with NBIA. CONCLUSION: We conclude that different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including INAD, NBIA and dystonia-parkinsonism.
BACKGROUND:PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families. METHODS: Direct sequencing analysis of the PLA2G6 gene. RESULTS: Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree. The identical mutation was previously observed in a patient affected with NBIA. CONCLUSION: We conclude that different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including INAD, NBIA and dystonia-parkinsonism.
Authors: Sasanka Ramanadham; Tomader Ali; Jason W Ashley; Robert N Bone; William D Hancock; Xiaoyong Lei Journal: J Lipid Res Date: 2015-05-28 Impact factor: 5.922
Authors: Coro Paisán-Ruiz; Rocio Guevara; Monica Federoff; Hasmet Hanagasi; Fardaz Sina; Elahe Elahi; Susanne A Schneider; Petra Schwingenschuh; Nin Bajaj; Murat Emre; Andrew B Singleton; John Hardy; Kailash P Bhatia; Sebastian Brandner; Andrew J Lees; Henry Houlden Journal: Mov Disord Date: 2010-09-15 Impact factor: 10.338