Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator,EIF2B4

2015 ◽  
Vol 88 (4) ◽  
pp. 401-403 ◽  
Author(s):  
Takamichi Kanbayashi ◽  
Fumiaki Saito ◽  
Takashi Matsukawa ◽  
Hiroshi Oba ◽  
Keiichi Hokkoku ◽  
...  
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Missense Mutations ◽  
Adult Onset ◽  
A Subunit ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

2008 ◽  
Vol 110 (10) ◽  
pp. 1068-1071 ◽  
Author(s):  
Nathalie Damon-Perriere ◽  
Patrice Menegon ◽  
Anne Olivier ◽  
Odile Boespflug-Tanguy ◽  
Florence Niel ◽  
...  
Keyword(s):  
White Matter ◽  
Phenotypic Heterogeneity ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

scholarly journals A case of adult onset vanishing white matter disease developed after minor head trauma

2012 ◽  
Vol 52 (8) ◽  
pp. 561-566 ◽  
Author(s):  
Shunsuke Koga ◽  
Yukari Sekiguchi ◽  
Kazuaki Kanai ◽  
Mayumi Mutoh ◽  
Satoshi Kuwabara
Keyword(s):  
White Matter ◽  
Head Trauma ◽  
White Matter Disease ◽  
Minor Head Trauma ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

scholarly journals Adult-onset vanishing white matter disease presenting as dementia

2021 ◽  
pp. 004-008
Author(s):  
Belarbi Soreya ◽  
Bensemmane Selma Dounia ◽  
Bouguerra Imene ◽  
Ouali Meriem ◽  
Mokrane Samira Makri
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Adult-onset vanishing white matter disease with psychiatric manifestation: A case report

2021 ◽  
Vol 429 ◽  
pp. 118258
Author(s):  
Rim Smaoui ◽  
Khadija Sonda Moalla ◽  
Nouha Farhat ◽  
Salma Sakka ◽  
Olfa Hdiji ◽  
...  
Keyword(s):  
Case Report ◽  
White Matter ◽  
White Matter Disease ◽  
Adult Onset ◽  
Psychiatric Manifestation ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

096 A 47-year old female with slowly progressive cognitive impairment and motor decline

2018 ◽  
Vol 89 (6) ◽  
pp. A38.2-A38
Author(s):  
Wilson Vallat ◽  
Timothy Kleinig
Keyword(s):  
Cognitive Impairment ◽  
White Matter ◽  
Cognitive Dysfunction ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
White Matter Disease ◽  
Adult Onset ◽  
Extrapyramidal Signs ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

IntroductionWe present the case of a woman with an 8 year history of slowly progressive cognitive dysfunction and gait disturbance, and a diagnosis of vanishing white matter disease (VWMD).CaseThe patient struggled at work as an accountant, her hand writing became illegible, she had difficulty judging distances when driving and she had developed gait instability, slowing and falls. Her past medical history was unremarkable save for premature menopause at 35. Examination showed marked cognitive impairment ACE-R 59/100 (attention and orientation – 13/18, memory – 16/26, fluency – 1/14, language – 21/26, visuospatial – 8/16), reduced dexterity of hands, left upper limb ataxia and high- level gait dysfunction. MRI brain showed leukodystrophy with frontal predominance. Relevant investigations – white cell enzymes, very long chain fatty acids, phytanic acid, CSF were normal. In view of the clinical and radiological features genetic testing with leukodystrophy panel was performed which revealed homozygous eukaryotic translation initiation factor B3 (EIF2B3) mutation (p.Ala87Val variant). Adult onset leukodystrophies are rare genetic metabolic disorders of the glial cells. The white matter (WM) degeneration causes disruption of distributed neural networks resulting in variable constellation of cognitive dysfunction, ataxia, pyramidal and extrapyramidal signs. The clinical and radiological phenotypes overlap and there are up to 60 genes that account for adult onset leukodystrophy, which makes diagnosis challenging. Vanishing white matter disease due to EIF2B gene mutation are a group of disorders that result from mutation of any of the EIF2B subunits (1 to 5). Two thirds have associated premature ovarian failure. MRI shows confluent WM T2 high signal, subcortical U Fibre sparing, periventricular WM rarefaction and cerebral atrophy. Management is symptomatic.ConclusionAdult onset VWMD is a rare and devastating condition. When evaluating these patients targeted gene testing guided by clinical and radiological phenotype is likely to provide the highest diagnostic yield. Establishing the diagnosis is important as it has implications on future generations.

scholarly journals Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

2012 ◽  
Vol 69 (6) ◽  
Author(s):  
Roberta La Piana ◽  
Adeline Vanderver ◽  
Marjo van der Knaap ◽  
Louise Roux ◽  
Donatella Tampieri ◽  
...  
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

scholarly journals Teaching NeuroImages: Adult-onset vanishing white matter disease

Neurology ◽  
2018 ◽  
Vol 90 (12) ◽  
pp. e1091-e1092
Author(s):  
Rocío-Nur Villar-Quiles ◽  
Celia Delgado-Suárez ◽  
Manuela Jorquera-Moya ◽  
Javier Arpa-Gutiérrez ◽  
Gloria Ortega-Suero
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

scholarly journals Automated segmentation reveals silent radiographic progression in adult-onset vanishing white-matter disease

2016 ◽  
Vol 30 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Thomas Huber ◽  
Marina Herwerth ◽  
Esther Alberts ◽  
Jan S Kirschke ◽  
Claus Zimmer ◽  
...  
Keyword(s):  
White Matter ◽  
Mr Imaging ◽  
Rating Scale ◽  
Control Group ◽  
White Matter Disease ◽  
Adult Onset ◽  
Automated Method ◽  
One Year ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Adult-onset vanishing white-matter disease (VWM) is a rare autosomal recessive disease with neurological symptoms such as ataxia and paraparesis, showing extensive white-matter hyperintensities (WMH) on magnetic resonance (MR) imaging. Besides symptom-specific scores like the International Cooperative Ataxia Rating Scale (ICARS), there is no established tool to monitor disease progression. Because of extensive WMH, visual comparison of MR images is challenging. Here, we report the results of an automated method of segmentation to detect alterations in T2-weighted fluid-attenuated-inversion-recovery (FLAIR) sequences in a one-year follow-up study of a clinically stable patient with genetically diagnosed VWM. Signal alterations in MR imaging were quantified with a recently published WMH segmentation method by means of extreme value distribution (EVD). Our analysis revealed progressive FLAIR alterations of 5.84% in the course of one year, whereas no significant WMH change could be detected in a stable multiple sclerosis (MS) control group. This result demonstrates that automated EVD-based segmentation allows a precise and rapid quantification of extensive FLAIR alterations like in VWM and might be a powerful tool for the clinical and scientific monitoring of degenerative white-matter diseases and potential therapeutic interventions.

Adult-onset vanishing white matter disease

2005 ◽  
Vol 32 (S 4) ◽  
Author(s):  
A Riecker ◽  
M Henneke ◽  
T Nägele ◽  
L Schöls
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Adult Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter
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