| 概要 |
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation of axonal spheroids are the pathological hallmark of HDLS. It has been reported that mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause this disease. CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain.
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| 著者 |
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK |
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| 著者 |
Sundal C, Carmona S, Yhr M, Almstrom O, Ljungberg M, Hardy J, Hedberg-Oldfors C, Fred A, Bras J, Oldfors A, Andersen O, Guerreiro R |
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