| Adult-onset hereditary leukoencephalopathy: classification and molecular basis of the disorder. | |
| | |
MedLine Citation:
|
PMID: 23196628 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Adult-onset leukoencephalopathy involving the white matter of the brain is a heterogeneous disorder that exhibits a wide range of clinical manifestations. Recent advances in molecular genetics enable gene-based diagnosis of some forms of adult-onset leukoencephalopathy. In this review, the classification of adult-onset leukoencephalopathy based on molecular genetic findings is proposed. The autosomal dominant forms of adult-onset leukoencephalopathy include hereditary diffuse leukoencephalopathy with spheroids (HDLS), autosomal dominant adult-onset leukoencephalopathy (ALDL), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and Alexander disease. The autosomal recessive forms of adult-onset leukoencephalopathy include cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), vanishing white matter (VWM) with leukoencephalopathy, Nasu-Hakola disease, and metachromatic leukodystrophy (MDL). X-chromosome-linked disorders include fragile X-associated tremor and ataxia syndrome (FXTAS) and adrenoleukodystrophy (ALD). Identification of the genes responsible for adult-onset leukoencephalopathy provides an important clue for elucidation of molecular pathophysiology underlying white matter disorders. One example is the identification of mutations in colony stimulating factor 1 receptor (CSF-1R) in patients with HDLS. Missense and splice site mutations have been found in the tyrosine kinase domain of CSF-1R. CSF-1R is highly expressed in microglia in the brain. It has been demonstrated that mice depleted of CSF-1R exhibit loss of microglia in the brain. In addition, stimulation of IL-34, a ligand of CSF-1R, induces proliferation and activation of microglia. These findings raise an intriguing possibility that dysfunction of microglia may play a role in the pathogenesis of white matter lesions occurring in patients with HDLS. |
| | |
Authors:
|
Takeshi Ikeuchi |
Related Documents
:
|
23079978 - Candidate genes for production traits in nelore beef cattle. 23621958 - Analytic performance studies and clinical reproducibility of a real-time pcr assay for ... 23404318 - Interpreting joint snp analysis results: when are two distinct signals really two disti... 23167378 - Impact of cyp2d6 polymorphisms on tamoxifen responses of women with breast cancer: a mi... 15908298 - Association between psoriasis vulgaris and mhc-drb, -dqb genes as a contribution to dis... 20018088 - A pathway analysis applied to genetic analysis workshop 16 genome-wide rheumatoid arthr... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Rinshō shinkeigaku = Clinical neurology Volume: 52 ISSN: 1882-0654 ISO Abbreviation: Rinsho Shinkeigaku Publication Date: 2012 |
Date Detail:
|
Created Date: 2012-11-30 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0417466 Medline TA: Rinsho Shinkeigaku Country: Japan |
Other Details:
|
Languages: eng Pagination: 1386-9 Citation Subset: IM |
Affiliation:
|
Department of Neurology, Brain Research Institute, Niigata University. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): its clinical concept and the re...
Next Document: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) in early-onset dementia.