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Leukoencephalopathy with vanishing white matter presenting with presenile dementia.

Content Provider	Semantic Scholar
Author	Gascón-Bayarri, Jordi Campdelacreu, Jaume Sánchez-Castañeda, Cristina Martínez-Yélamos, Sergio Moragas, Mireia Scheper, Gert C. Knaap, Marjo S. Van Der René, R. Schleus
Copyright Year	2009
Abstract	Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, which is replaced by fluid. Five disease genes have been identified, EIF2B1-5 , which encode the five subunits of translation initiation factor eIF2B, essential for translation of mRNA into protein.1 Adult onset cases have been described.2–4 The p.Arg113His mutation in EIF2B5 is the most frequent mutation both in children and adults and is usually associated with a relatively benign phenotype.2 We report a late onset case homozygous for the p.Arg113His mutation in EIF2B5 , presenting with slowly progressive cognitive impairment with a neuropsychological profile of subcortical dementia. A 55-year-old woman was referred to our dementia unit because of inability …
Starting Page	1803
Ending Page	1812
Page Count	10
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://dare.ubvu.vu.nl/bitstream/handle/1871/22397/237706.pdf;sequence=2
Alternate Webpage(s)	http://dare.ubvu.vu.nl/bitstream/handle/1871/22397/237706.pdf?isAllowed=y&sequence=2
PubMed reference number	19531691v1
Alternate Webpage(s)	https://doi.org/10.1136/jnnp.2008.156091
DOI	10.1136/jnnp.2008.156091
Journal	Journal of neurology, neurosurgery, and psychiatry
Volume Number	80
Issue Number	7
Language	English
Access Restriction	Open
Subject Keyword	Alzheimer's Disease Autosomal recessive inheritance Cerebellar Ataxia Cerebral white matter structure Childhood Ataxia with Central Nervous System Hypomyelinization Cognition Disorders Encode (action) Homozygote Leukoencephalopathies Muscle Spasticity Mutation Online Mendelian Inheritance In Man Parkinson Disease Peptide Initiation Factors Presenile dementia Transcription Initiation Translation Initiation
Content Type	Text
Resource Type	Article

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