Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R

Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an autosomal dominant neurodegenerative disorder caused by mutations in the colony‐stimulating factor 1 receptor (CSF1R) gene. We, herein, report the first Japanese case of ALSP caused by a de novo p.Phe849del mutatio...

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Bibliographic Details
Published in:Neurology and clinical neuroscience 2020-03, Vol.8 (2), p.96-98
Main Authors: Senzaki, Kensuke, Miura, Shiroh, Ochi, Masayuki, Katoh, Takeaki, Okada, Yoko, Matsumoto, Sayaka, Shiraoka, Akira, Ochi, Hirofumi, Igase, Michiya, Kitazawa, Riko, Zhu, Bin, Ikeuchi, Takeshi, Ohyagi, Yasumasa
Format: Article
Language:English
Subjects:
Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
Biopsy
callosal disconnection
Computed tomography
Corpus callosum
CSF1R
Hereditary diseases
Leukoencephalopathy
Magnetic resonance imaging
Mutation
Neurodegenerative diseases
Neuronal-glial interactions
p.Phe849del
Single photon emission computed tomography
SPECT
Spheroids
Substantia alba
Tomography
Ventricle (lateral)
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Summary:Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an autosomal dominant neurodegenerative disorder caused by mutations in the colony‐stimulating factor 1 receptor (CSF1R) gene. We, herein, report the first Japanese case of ALSP caused by a de novo p.Phe849del mutation in CSF1R: a 44‐year‐old man who presented callosal disconnection symptoms. Brain MRI revealed dilation of the lateral ventricles, periventricular white matter hyperintensities, and thinning of the corpus callosum with hyperintensities on T2‐weighted and FLAIR images. Brain single photon emission computed tomography (SPECT) showed hypoperfusion in the anterior corpus callosum. White matter lesions in MRI and hypoperfusion in SPECT increased with age. A brain biopsy at 44 years revealed axonal spheroids. Callosal disconnection symptoms and hypoperfusion in the anterior corpus callosum may be important indicators of ALSP, especially when caused by a p.Phe849del CSF1R mutation.
ISSN:2049-4173
2049-4173
DOI:10.1111/ncn3.12367