カミヤ　コウヘイ   Kamiya Kohei   神谷　昂平    所属   東邦大学  医学部 医学科（大森病院）    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
掲載誌名	正式名：Brain&development ISSNコード：03877604
出版社	ELSEVIER SCIENCE BV
巻・号・頁	35(5),pp.458-61
著者・共著者	Yukio Kimura,Noriko Sato,Kenji Sugai,Shinsuke Maruyama,Miho Ota,Kouhei Kamiya,Kimiteru Ito,Yasuhiro Nakata,Masayuki Sasaki,Hideharu Sugimoto
発行年月	2013/05
概要	Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established disorder that is a subtype of neurodegeneration with brain iron accumulation (NBIA). We presented the first case report of SENDA of a 39-year-old female. She had psychomotor retardation from childhood and remained static for two decades. Then, at the age of 30, she developed severe dystonia and parkinsonism. Brain MRI revealed T2-weighted hypointensity signal in the globus pallidus and substantia nigra, and T1-weighted hyperintensity signal in the substantia nigra with a central hypointensity area. These clinical and imaging findings are characteristic of SENDA. Advanced MRI, including (1)H-MR spectroscopy (MRS) and diffusion tensor imaging (DTI), demonstrated similar findings of pantothenate kinase-associated neurodegeneration (PKAN), which is a major syndrome of SENDA. MRI plays a crucial role in the diagnosis of NBIA, especially SENDA.
DOI	10.1016/j.braindev.2012.07.008
PMID	22892189