当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

Abstract：

:We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Ahmed R,Guerreiro R,Rohrer JD,Guven G,Rossor MN,Hardy J,Fox NC

doi

10.1016/j.jns.2013.06.007

subject

Has Abstract

pub_date

2013-09-15 00:00:00

pages

141-4

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(13)00267-0

journal_volume

332

pub_type

杂志文章

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