臨床神経学

<Late Breaking Symposium―1>新たな若年性認知症:神経軸索ジストロフィーを伴う遺伝性白質脳症(HDLS)

HDLSの疾患概念と国内報告例のレビュー

池田 修一

信州大学医学部脳神経内科,リウマチ・膠原病内科〔〒390―8621 松本市旭3―1―1〕

Leukoencephalopathy or leukodystrophy is characterized pathologically by extensive degenerative and/or demyelinating lesions in cerebral white matter and produces various clinical manifestations such as behavioral and/or mood changes, dementia, motor impairment and epilepsy. The hereditary form of this disease is rare, but recent advances in diagnostic techniques have made it possible to make a correct pre-mortem diagnosis for some diseases including CADASIL and CARASIL. Recently, another unique form of the disease, hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) has been noted. The clinical picture of HDLS is as follows: age of onset ranging from 8 to 78 years (average: 39 years), autosomal dominant inheritance, and dementia. The presence of numerous neuroaxonal spheroid in cerebral white matter is one of the pathologic hallmarks of HDLS. Another term "familial pigmentary orthochromatic leukodystrophy (POLD)" has been also used for the patients showing similar clinical pictures and pathologic findings of the patients. Both disorders are now regarded as a single disease entity. Rademakers et al have just reported that HDLS is caused by mutation in the colony stimulating factor 1 receptor gene (CSF1R) and HDLS should be included in the differential diagnosis of familial occurrence of presenile dementia.
Full Text of this Article in Japanese PDF (296K)

(臨床神経, 52:1383−1385, 2012)
key words:遺伝性白質脳症,軸索腫大,認知機能低下,初老期認知症

(受付日:2012年5月25日)