Vanishing White Matter Hyperintensities in CADASIL: A Case Report with Insight into Disease Mechanisms

2020 ◽  
Vol 78 (3) ◽  
pp. 907-910
Author(s):  
Eric Jouvent ◽  
Nassira Alili ◽  
Dominique Hervé ◽  
Hugues Chabriat
Keyword(s):  
White Matter ◽  
White Matter Hyperintensities ◽  
Autosomal Dominant ◽  
Brain Area ◽  
Imaging Features ◽  
Water Influx ◽  
Disease Mechanisms ◽  
The Brain ◽  
Vanishing White Matter ◽  
Insight Into

In a woman with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) followed for 15 years, we observed magnetic resonance imaging white matter hyperintensities that vanished in the anterior temporal poles while the brain volume decreased unexpectedly. These imaging changes were transient and detected when the patient was being treated by valproic acid for stabilizing mood disturbances. This intriguing case supports that mechanisms underlying white matter hyperintensities can vary from one brain area to another and that important modifications of water influx into the brain tissue might be involved in some imaging features of CADASIL.

scholarly journals A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting as post-infectious manifestation of SARS-CoV-2 infection

2021 ◽  
pp. 20210020
Author(s):  
Ishwariya Rajendran ◽  
Madhu Dutta Natarajan ◽  
Pooja Narwani ◽  
Omran Alzouabi ◽  
Khalil Kawafi ◽  
...  
Keyword(s):  
White Matter ◽  
Cerebrovascular Disease ◽  
White Matter Hyperintensities ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Imaging Features ◽  
Neurological Manifestations ◽  
Lacunar Infarcts ◽  
Post Infectious

White matter hyperintensities (WMHs) lacunar infarcts and cerebral microbleeds are well-established features associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Increasing case reports and series recounts a wide array of neurological manifestations of COVID-19 including acute cerebrovascular disease, encephalopathy, encephalitis and demyelination. Recently association between COVID-19 and CADASIL has been identified. We describe an unusual case of CADASIL diagnosed as a possible post-infectious manifestation of COVID-19 patient with imaging features closely resembling post-infectious encephalomyelitis.

scholarly journals White matter hyperintensities are common in midlife and already associated with cognitive decline

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
Tracy d’Arbeloff ◽  
Maxwell L Elliott ◽  
Annchen R Knodt ◽  
Tracy R Melzer ◽  
Ross Keenan ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Decline ◽  
White Matter Hyperintensities ◽  
Clinical Symptoms ◽  
White Matter Hyperintensity ◽  
Dementia Prevention ◽  
Increased Risk ◽  
Weighted Magnetic Resonance Imaging ◽  
Intervention Trials ◽  
The Brain

Abstract White matter hyperintensities proliferate as the brain ages and are associated with increased risk for cognitive decline as well as Alzheimer’s disease and related dementias. As such, white matter hyperintensities have been targeted as a surrogate biomarker in intervention trials with older adults. However, it is unclear at what stage of aging white matter hyperintensities begin to relate to cognition and if they may be a viable target for early prevention. In the Dunedin Study, a population-representative cohort followed since birth, we measured white matter hyperintensities in 843 45-year-old participants using T2-weighted magnetic resonance imaging and we assessed cognitive decline from childhood to midlife. We found that white matter hyperintensities were common at age 45 and that white matter hyperintensity volume was modestly associated with both lower childhood (ß = −0.08, P = 0.013) and adult IQ (ß=−0.15, P < 0.001). Moreover, white matter hyperintensity volume was associated with greater cognitive decline from childhood to midlife (ß=−0.09, P < 0.001). Our results demonstrate that a link between white matter hyperintensities and early signs of cognitive decline is detectable decades before clinical symptoms of dementia emerge. Thus, white matter hyperintensities may be a useful surrogate biomarker for identifying individuals in midlife at risk for future accelerated cognitive decline and selecting participants for dementia prevention trials.

Brain-Area Specific White Matter Hyperintensities: Associations to Falls in Parkinson’s Disease

2018 ◽  
Vol 8 (3) ◽  
pp. 455-462 ◽  
Author(s):  
Meltem Ciliz ◽  
Jennifer Sartor ◽  
Tobias Lindig ◽  
Andrea Pilotto ◽  
Eva Schäffer ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
White Matter ◽  
White Matter Hyperintensities ◽  
Brain Area

scholarly journals White matter hyperintensities are common in midlife and already associated with cognitive decline

2019 ◽  
Author(s):  
Tracy d’Arbeloff ◽  
Maxwell L. Elliott ◽  
Annchen R. Knodt ◽  
Tracy R. Melzer ◽  
Ross Keenan ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Decline ◽  
White Matter Hyperintensities ◽  
Clinical Symptoms ◽  
Early Prevention ◽  
Dementia Prevention ◽  
Increased Risk ◽  
Prevention Trials ◽  
Intervention Trials ◽  
The Brain

AbstractWhite matter hyperintensities (WMHs) proliferate as the brain ages and are associated with increased risk for cognitive decline as well as Alzheimer’s disease and related dementias. As such, WMHs have been targeted as a surrogate biomarker in intervention trials with older adults. However, it is unclear at what stage of aging WMHs begin to relate to cognition and if they may be a viable target for early prevention. In a population-representative birth cohort of 843 45-year-olds we measured WMHs using T2-weighted MRI, and we assessed cognitive decline from childhood to midlife. We found that WMHs were common at age 45 and that WMH volume was modestly associated with both lower childhood (ß=-0.08, p=0.013) and adult IQ (ß=-0.15, p<0.001). Moreover, WMH volume was associated with greater cognitive decline from childhood to midlife (ß=-0.09, p<0.001). Our results demonstrate that a link between WMHs and early signs of cognitive decline is detectable decades before clinical symptoms of dementia emerge. Thus, WMHs may be a useful surrogate biomarker for identifying individuals in midlife at risk for future accelerated cognitive decline and selecting participants for dementia prevention trials.

scholarly journals Increased interstitial fluid in periventricular and deep white matter hyperintensities in patients with suspected idiopathic normal pressure hydrocephalus

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alexander Rau ◽  
Marco Reisert ◽  
Elias Kellner ◽  
Jonas A. Hosp ◽  
Horst Urbach ◽  
...  
Keyword(s):  
White Matter ◽  
Water Content ◽  
Normal Pressure Hydrocephalus ◽  
Interstitial Fluid ◽  
White Matter Hyperintensities ◽  
Free Water ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Imaging Features ◽  
Deep White Matter

AbstractPeriventricular white matter changes are common in patients with idiopathic normal pressure hydrocephalus (iNPH) and considered to represent focally elevated interstitial fluid. We compared diffusion measures in periventricular hyperintensities in patients with imaging features of iNPH to patients without. The hypothesis is that periventricular hyperintensities in patients with presumed iNPH show higher water content than in patients without imaging features of iNPH. 21 patients with iNPH Radscale 7–12 (“high probability of iNPH”) and 10 patients with iNPH Radscale 2–4 (“low probability of iNPH”) were examined with a neurodegeneration imaging protocol including a diffusion microstructure imaging sequence. Periventricular hyperintensities and deep white matter hyperintensities were segmented and diffusion measures were compared. In patients with imaging features of iNPH, the free water content in periventricular hyperintensities was significantly higher compared to the control group (p = 0.005). This effect was also detectable in deep white matter hyperintensities (p = 0.024). Total brain volumes and total gray or white matter volumes did not differ between the groups. Periventricular cap free water fraction was highly discriminative regarding patients with presumed iNPH and controls with an ROC AUC of 0.933. Quantitative diffusion microstructure imaging shows elevated water content in periventricular hyperintensities in patients with imaging features of iNPH, which could be the imaging correlate for pathologic fluid accumulation and may be used as an imaging biomarker in the future.

scholarly journals A CADASIL-Like Case with a Novel Noncysteine Mutation of theNOTCH3Gene and Granular Deposits in the Renal Arterioles

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Kuniyuki Nakamura ◽  
Tetsuro Ago ◽  
Akihiro Tsuchimoto ◽  
Nozomi Noda ◽  
Asako Nakamura ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
White Matter ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
White Matter Lesions ◽  
Cerebral Lesions ◽  
Progressive Renal Failure ◽  
Heterozygous Missense Mutation ◽  
The Brain

We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL-) like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of theNOTCH3gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case.

083 Response to immunosuppressive therapy in cerebral amyloid angiopathy-related inflammation

2018 ◽  
Vol 89 (6) ◽  
pp. A33.3-A34
Author(s):  
Jasmin Tilling ◽  
Benjamin Trewin ◽  
Stanley Levy
Keyword(s):  
White Matter ◽  
Cognitive Decline ◽  
Cerebral Amyloid Angiopathy ◽  
White Matter Hyperintensities ◽  
Neurological Deficits ◽  
Amyloid Angiopathy ◽  
Dramatic Improvement ◽  
Age Related ◽  
Cerebral Amyloid ◽  
The Brain

IntroductionCerebral amyloid angiopathy (CAA) is a common age-related condition characterised by amyloid beta-peptide deposition affecting the medium sized cortical and leptomeningeal arteries, arterioles and capillaries. CAA-related Inflammation (CAA-I) is an increasingly recognised variant of CAA, which is thought to be due to perivascular auto-inflammation in response to amyloid deposition. We describe the clinical course of two cases of probable CAA-I.CasesA 71 year old man presented with new-onset seizures, headaches and subacute cognitive decline. MRI of the brain demonstrated confluent subcortical T2 white matter hyperintensities and cerebral oedema, with predominantly superimposed widespread cortico-subcortical micro-haemorrhages, in keeping with the diagnosis of CAA-I. A course of immunosuppresive therapy was commenced with five days of intravenous methylprednisolone, resulting in marked radiological and clinical improvement within two weeks.A 76 year old female presented with subacute cognitive dysfunction and apraxia, and transient left-sided weakness. MRI scan of the brain initially demonstrated a right temporo-occipital infarct, leading to primary treatment for stroke, but subsequently evolved to reveal diffuse multi-lobar T2 white matter hyperintensities with leptomeningeal involvement. A provisional diagnosis of CAA-I was made and following a poor clinical response to a trial of corticosteroid therapy, treatment with intravenous cyclophosphamide was commenced.ConclusionThese cases emphasise the importance of CAA-I as part of the differential diagnosis in patients presenting with symptoms of subacute cognitive decline, seizures, headaches and focal neurological deficits, given the potential for dramatic improvement with readily accessible immunosuppressive therapies.

scholarly journals Extensive White Matter Hyperintensities May Increase Brain Volume in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Stroke ◽  
2012 ◽  
Vol 43 (12) ◽  
pp. 3252-3257 ◽  
Author(s):  
Ming Yao ◽  
Eric Jouvent ◽  
Marco During ◽  
Ophélia Godin ◽  
Dominique Hervé ◽  
...  
Keyword(s):  
White Matter ◽  
White Matter Hyperintensities ◽  
Autosomal Dominant ◽  
Brain Volume
Sign in / Sign up

Export Citation Format

Share Document