WANG Jing, LIU Zhong-Zhong, LU Qing-Li, LIU Pei, CHANG Qiao-Qiao, LIU Yan, LIN Xue-Mei, WANG Fang, WU Song-Di. A Case of Hereditary Diffuse Leukoencephalopathy with Spheroids Characterized by Persistent Diffusion-Limited Lesions[J]. Chinese Journal of Stroke, 2021, 16(07): 734-738.
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disorders in adult-onset leukoencephalopathy
with axonal spheroids and pigmented glia[J/OL].
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al. Adult-onset leukoencephalopathy with axonal
spheroids and pigmented glia caused by a novel
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srep10042.
[4] RADEMAKERS R，BAKER M，NICHOLSON A
M，et al. Mutations in the colony stimulating factor
1 receptor（CSF1R）gene cause hereditary diffuse
leukoencephalopathy with spheroids[J]. Nat Genet，
2011，44（2）：200-205.
[5] KONNO T，KASANUKI K，IKEUCHI T，et al.
CSF1R-related leukoencephalopathy：a major player
in primary microgliopathies[J]. Neurology，2018，91
（24）：1092-1104.
[6] ZHUANG L P，LIU C Y，LI Y X，et al. Clinical
features and genetic characteristics of hereditary
diffuse leukoencephalopathy with spheroids due
to CSF1R mutation：a case report and literature
review[J]. Ann Transl Med，2020，8（1）：11.
[7] KONNO T，YOSHIDA K，MIZUTA
I，et al. Diagnostic criteria for adult-onset
leukoencephalopathy with axonal spheroids and
pigmented glia due to CSF1R mutation[J]. Eur J
Neurol，2018，25（1）：142-147.
[8] KONNO T，YOSHIDA K，MIZUNO T，et al.
Clinical and genetic characterization of adult-onset
leukoencephalopathy with axonal spheroids and
pigmented glia associated with CSF1R mutation[J].
Eur J Neurol，2017，24（1）：37-45.
[9] BENDER B，KLOSE U，LINDIG T，et al. Imaging
features in conventional MRI，spectroscopy and
diffusion weighted images of hereditary diffuse
leukoencephalopathy with axonal spheroids（HDLS）
[J]. J Neurol，2014，261（12）：2351-2359.
[10] SUNDAL C，VAN GERPEN J A，NICHOLSON A
M，et al. MRI characteristics and scoring in HDLS
due to CSF1R gene mutations[J]. Neurology，2012，
79（6）：566-574.
[11] BALASHOV K E，AUNG L L，DHIB-JALBUT
S，et al. Acute multiple sclerosis lesion：conversion
of restricted diffusion due to vasogenic edema[J]. J
Neuroimaging，2011，21（2）：202-204.
[12] IKEDA S. Hereditary diffuse leukoencephalopathy
with axonal spheroids（HDLS）：its clinical concept
and the review of the previously reported cases[J].
Rinsho Shinkeigaku，2012，52（11）：1383-1385.
[13] WANG Y，SZRETTER K J，VERMI W，et al. IL-34
is a tissue-restricted ligand of CSF1R required for the
development of Langerhans cells and microglia[J].
Nat Immunol，2012，13（8）：753-760.
[14] SAITOH B Y，YAMASAKI R，HAYASHI S，et al.
A case of hereditary diffuse leukoencephalopathy
with axonal spheroids caused by a de novo mutation
in CSF1R masquerading as primary progressive
multiple sclerosis[J]. Mult Scler，2013，19（10）：
[1] IKEUCHI T，MEZAKI N，MIURA T. Cognitive
dysfunction and symptoms of movement
disorders in adult-onset leukoencephalopathy
with axonal spheroids and pigmented glia[J/OL].
Parkinsonism Relat Disord，2018，46（Suppl
1）：S39-S41[2020-11-02]. https：//doi.org/10.1016/
j.parkreldis.2017.08.018.
[2] AXELSSON R，RÖYTTÄ M，SOURANDER P，et
al. Hereditary diffuse leucoencephalopathy with
spheroids[J]. Acta Psychiatr Scand Suppl，1984，314
（9）：1-65.
[3] FOULDS N，PENGELLY R J，HAMMANS S R，et
al. Adult-onset leukoencephalopathy with axonal
spheroids and pigmented glia caused by a novel
R782G mutation in CSF1R[J/OL]. Sci Rep，2015，
5：10042[2020-11-02]. https：//doi. org/10. 1038/
srep10042.
[4] RADEMAKERS R，BAKER M，NICHOLSON A
M，et al. Mutations in the colony stimulating factor
1 receptor（CSF1R）gene cause hereditary diffuse
leukoencephalopathy with spheroids[J]. Nat Genet，
2011，44（2）：200-205.
[5] KONNO T，KASANUKI K，IKEUCHI T，et al.
CSF1R-related leukoencephalopathy：a major player
in primary microgliopathies[J]. Neurology，2018，91
（24）：1092-1104.
[6] ZHUANG L P，LIU C Y，LI Y X，et al. Clinical
features and genetic characteristics of hereditary
diffuse leukoencephalopathy with spheroids due
to CSF1R mutation：a case report and literature
review[J]. Ann Transl Med，2020，8（1）：11.
[7] KONNO T，YOSHIDA K，MIZUTA
I，et al. Diagnostic criteria for adult-onset
leukoencephalopathy with axonal spheroids and
pigmented glia due to CSF1R mutation[J]. Eur J
Neurol，2018，25（1）：142-147.
[8] KONNO T，YOSHIDA K，MIZUNO T，et al.
Clinical and genetic characterization of adult-onset
leukoencephalopathy with axonal spheroids and
pigmented glia associated with CSF1R mutation[J].
Eur J Neurol，2017，24（1）：37-45.
[9] BENDER B，KLOSE U，LINDIG T，et al. Imaging
features in conventional MRI，spectroscopy and
diffusion weighted images of hereditary diffuse
leukoencephalopathy with axonal spheroids（HDLS）
[J]. J Neurol，2014，261（12）：2351-2359.
[10] SUNDAL C，VAN GERPEN J A，NICHOLSON A
M，et al. MRI characteristics and scoring in HDLS
due to CSF1R gene mutations[J]. Neurology，2012，
79（6）：566-574.
[11] BALASHOV K E，AUNG L L，DHIB-JALBUT
S，et al. Acute multiple sclerosis lesion：conversion
of restricted diffusion due to vasogenic edema[J]. J
Neuroimaging，2011，21（2）：202-204.
[12] IKEDA S. Hereditary diffuse leukoencephalopathy
with axonal spheroids（HDLS）：its clinical concept
and the review of the previously reported cases[J].
Rinsho Shinkeigaku，2012，52（11）：1383-1385.
[13] WANG Y，SZRETTER K J，VERMI W，et al. IL-34
is a tissue-restricted ligand of CSF1R required for the
development of Langerhans cells and microglia[J].
Nat Immunol，2012，13（8）：753-760.
[14] SAITOH B Y，YAMASAKI R，HAYASHI S，et al.
A case of hereditary diffuse leukoencephalopathy
with axonal spheroids caused by a de novo mutation
in CSF1R masquerading as primary progressive
multiple sclerosis[J]. Mult Scler，2013，19（10）：
