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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.

Abstract：

:We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. We identified two known mutations: c.2342C>T (p.A781V) in one autopsy-proven HDLS and clinically ALSP-suspected case and c.2345G>A (p.R782H) in another autopsy-proven POLD case. We also found a novel mutation (c.2296A>G; p.M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Kim EJ,Shin JH,Lee JH,Kim JH,Na DL,Suh YL,Hwang SJ,Lee JH,Lee YM,Shin MJ,Lee MJ,Kim SJ,Yoon U,Park DY,Jung DS,Ahn JW,Sung S,Huh GY

doi

10.1016/j.jns.2014.12.021

subject

Has Abstract

pub_date

2015-02-15 00:00:00

pages

232-8

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(14)00786-2

journal_volume

349

pub_type

杂志文章

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