Cognition, mood and behavior in CADASIL

Chabriat, Hugues; Oberstein, S. Lesnik

doi:10.1016/j.cccb.2022.100043

Cited by 11 publications

(13 citation statements)

References 101 publications

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“…31,33 Other transient clinical manifestations were depression episodes in two N int cases, possibly favoured by the presence of confluent white matter abnormalities. 34 Interesting, only a single N int woman was totally asymptomatic and diagnosed after her brother had a stroke at young age, which led to genetic testing. The results did not change when only "index" patients were considered in the analysis (supplementary data).…”

Section: Discussionmentioning

confidence: 99%

“…Also, this high prevalence of migraine with aura in N int elderly individuals further supports the absence of link between migraine with aura and clinical disability or cognitive decline in CADASIL [ 31 , 33 ]. Other transient clinical manifestations were depression episodes in two N int cases, possibly favoured by the presence of confluent white matter abnormalities [ 34 ]. Interesting, only a single N int woman was totally asymptomatic and diagnosed after her brother had a stroke at young age, which led to genetic testing.…”

Section: Discussionmentioning

confidence: 99%

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Elderly CADASIL patients with intact neurological status

et al. 2022

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Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most devastating cerebral small vessel diseases. However, despite its progression with aging, some patients remain neurologically intact (Nint) even when they get older. Their main characteristics are poorly known. We aimed to delineate their clinical, imaging, and molecular features.Methods Individuals aged over 65 years were selected from a cohort of 472 CADASIL patients. Subjects who had no focal deficit, cognitive impairment, or disability were considered Nint. Their demographic, genetic, clinical, and imaging features were compared to those with permanent neurological symptoms (Nps).Results Among 129 patients, 23 (17.8%) individuals were considered Nint. The frequency of vascular risk factors and NOTCH3 cysteine mutations in epidermal growth factor-like repeat (EGFr) domains 7-34 did not differ between Nint and Nps patients but Nint patients had less stroke events and were more likely to have migraine with aura. The number of lacunes and microbleeds and degree of brain atrophy were lower in the Nint group, but the volume of white matter hyperintensities did not differ between the two groups.Conclusions Nearly one in five CADASIL patients can remain Nint after the age of 65 years. Their clinical and imaging profile differed from that of other age-matched CADASIL patients. The location of NOTCH3 mutation inside or outside EGFr domains 1-6 cannot fully explain this discrepancy. The factors involved in their relative preservation of brain tissue from severe damage despite aging remain to be determined.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Elderly CADASIL patients with intact neurological status

et al. 2022

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“…6 The hallmark symptoms of CADASIL include attacks of migraine with aura, ischemic stroke events, cognitive decline from subtle dysexecutive symptoms up to severe dementia, seizures and various neuropsychiatric symptoms such as mood or behavior alterations. [7][8][9] In addition to the strong aging effect on disease progression, another major characteristic of the disease is the high variability of clinical presentation and severity among diagnosed patients. This was noticed from the first description of the disease 10,11 and confirmed later repeatedly both between and inside families, up to the sibling level.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Dupé

Guey

Biard

et al. 2022

J Cereb Blood Flow Metab

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The recent discovery that the prevalence of cysteine mutations in the NOTCH3 gene responsible for CADASIL was more than 100 times higher in the general population than that estimated in patients highlighted that the mutation location in EGFr-like-domains of the NOTCH3 receptor could have a major effect on the phenotype of the disease. The exact impact of such mutations locations on the multiple facets of the disease has not been fully evaluated. We aimed to describe the phenotypic spectrum of a large population of CADASIL patients and to investigate how this mutation location influenced various clinical and imaging features of the disease. Both a supervised and a non-supervised approach were used for analysis. The results confirmed that the mutation location is strongly related to clinical severity and showed that this effect is mainly driven by a different development of the most damaging ischemic tissue lesions at cerebral level. These effects were detected in addition to those of aging, male sex, hypertension and hypercholesterolemia. The exact mechanisms relating the location of mutations along the NOTCH3 receptor, the amount or properties of the resulting NOTCH3 products accumulating in the vessel wall, and their final consequences at cerebral level remain to be determined.

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“…69,70 The slowing of processing speed that marks the onset of the disease is usually followed by impaired attention and executive functions. 71,72 As the disease progresses, episodic memory may also decline, as may reasoning and visuospatial abilities. 73,74 Early onset and progressive deterioration of language impairment without evidence of focal lesions on brain imaging are among the features that make the diagnosis of subcortical VD less likely.…”

Section: Language Impairment In Subcortical Vascular Dementiamentioning

confidence: 99%

Language Impairment in Vascular Dementia: A Clinical Review

Macoir

2023

J Geriatr Psychiatry Neurol

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Vascular cognitive impairment (VCI) encompasses a wide range of conditions, including cognitive impairment associated with stroke or vascular brain injury, mild vascular cognitive impairment, and vascular dementia (VD). Knowledge of language impairment associated with VD is far less extensive than that of Alzheimer's disease. Although not prevalent in VD, impairment in language skills has been reported. A better understanding of the neurolinguistic features associated with the different presentations of VD could facilitate medical diagnosis. In this article, we report data on language impairment in VD, with particular attention to their primary or secondary functional origin. To better appreciate this functional origin, we also outline the main characteristics of impairment in other cognitive functions. Key elements that should be considered in the speech-language assessment of individuals with possible or proven VD are also highlighted.

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Cognition, mood and behavior in CADASIL

Cited by 11 publications

References 101 publications

Elderly CADASIL patients with intact neurological status

Elderly CADASIL patients with intact neurological status

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

Language Impairment in Vascular Dementia: A Clinical Review

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