Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R

Author:

Kondo Yasufumi1,Kinoshita Michiaki1,Fukushima Kazuhiro1,Yoshida Kunihiro2,Ikeda Shu-ichi1

Affiliation:

1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

2. Department of Brain Disease Research, Shinshu University School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Reference18 articles.

1. 1. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44: 200-205, 2012.

2. 2. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rohdes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol (Berl) 107: 481-488, 2004.

3. 3. Freeman SH, Hyman BT, Sims KB, et al. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 19: 39-47, 2009.

4. 4. Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wszolek ZK. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 72: 1953-1959, 2009.

5. 5. van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 54: 463-468, 2000.

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