Cognitive Profile of CADASIL Patients with R544C Notch3 Mutation

Song, Jung‐Min; Noh, Young; Lee, Jung Seok

doi:10.1159/000356199

Cited by 9 publications

(7 citation statements)

References 19 publications

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“…The phenotype mentioned in the miscellaneous periodical of CADASIL presenting with parkinsonism are distributed throughout the various mutation sites [9][10][11]. What calls for special attention concerns that there are few clinical case reports or the other researchers referred parkinsonism as the primary clinical performances of CADASIL with R544C mutation [2,[12][13][14][15]. We conclude previous studies in Table 1.…”

Section: Discussionsupporting

confidence: 62%

Parkinsonism is a new pattern onset of CADASIL patients carrying with R544C Mutation: a case report

Wang¹,

Ke²,

Fan³

et al. 2023

Preprint

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Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease of cerebral small vessels. It is the most frequent heritable disease that causes stroke and vascular dementia. In China, patients carrying c.1630C>T (p.Arg544Cys) accounted for large proportion, typical symptoms including migraine with aura, transient ischemic attacks (TIA) or ischemic stroke, intracranial hemorrhage, cognitive impairment, and psychiatric disturbance. Parkinsonism, as an advanced non-rare symptom of CADASIL, is rarely found in clinical CADASIL patients with it onset. Case presentation: This essay details a case of parkinsonism, which finally be identified as CADASIL with c.1630C > T (p. Arg544cys) mutation in the exon 11 of NOTCH3 gene. The patient, a 65-year-old male, presented with progressive gait instability, rigidity and mild emotional disorder. Head magnetic resonance imaging (MRI) revealed white matter (hyperintensity) signal in the bilateral periventricular and semiovale center. 3,4-Dihydroxy-6-[18F]-fluoro-L-phenylalanine (FDOPA) positron emission tomography (PET) revealed bilateral striatal FDOPA uptake was normal. Conclusions: Parkinsonism may be a new form of onset of CADASIL patients with c.1630C >T (p. Arg544cys) variants. Clinicians should systematically explore the possible cause of disease for patients with parkinsonism, and considering the potential diagnosis of CADASIL.

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Section: Discussionsupporting

confidence: 62%

Parkinsonism is a new pattern onset of CADASIL patients carrying with R544C Mutation: a case report

Wang¹,

Ke²,

Fan³

et al. 2023

Preprint

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“…Through meta‐analysis, a negative association was found between MMSE and white matter lesions volumes (r = –.26, 95% CI [–.43; –.09], n = 217), number of lacunes (r = –.40, 95% CI [–.69; –.12], n = 136) and number of microbleeds (r = –.22, 95% CI [‐.38; –.06], n = 188) in cSVD patients (in, respectively, 5, 3, and 2 studies, Table 3). 17,19,51,103–105 No significant pooled correlation was found between MMSE and white matter hyperintensity diffusion tensor imaging indexes (2 studies, data not shown) 106,107 . One single not meta‐analyzable study found a high negative correlation between MoCA performance and volumes of white matter lesions (r = –.47, n = 56) 103 .…”

Section: Resultsmentioning

confidence: 99%

“…Twenty‐five studies compared cSVD and healthy controls performances at targeted tests (16 sporadic cSVD and 9 CADASIL). 18 , 19 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 Among these studies, 20 compared performances at MMSE; 9 at MoCA; 13 at TMT‐A; 14 at TMT‐B; 8 at Stroop test; 5 at Boston Naming Test; 8 and 4 at phonemic and semantic fluency, respectively (Table 1 and Figure 3 ).…”

Section: Resultsmentioning

confidence: 99%

“…Through meta-analysis, a negative association was found between 3). 17,19,51,[103][104][105] No significant pooled correlation was found between MMSE and white matter hyperintensity diffusion tensor imaging indexes (2 studies, data not shown). 106,107 One single not meta-analyzable study found a high negative correlation between MoCA performance and volumes of white matter lesions (r = -.47, n = 56).…”

Section: Meta-analysesmentioning

confidence: 98%

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The clinical profile of cerebral small vessel disease: Toward an evidence‐based identification of cognitive markers

Salvadori

Brambilla

Maestri

et al. 2022

Alzheimer's & Dementia

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There is no consensus on which test is more suited to outline the cognitive deficits of cerebral small vessel disease (cSVD) patients. We explored the ability of eight cognitive tests, selected in a previous systematic review as the most commonly used in this population, to differentiate among cSVD patients, controls, and other dementing conditions performing a meta-analysis of 86 studies. We found that cSVD patients performed worse than healthy controls in all tests while data on the comparison to neurodegenerative diseases were limited. We outlined a lack of data on these tests' accuracy on the diagnosis. Cognitive tests measuring processing speed were those mostly associated with neuroimaging cSVD markers. There is currently incomplete evidence that a single test could differentiate cSVD patients with cognitive decline from other dementing diseases. We make preliminary proposals on possible strategies to gain information about the clinical definition of cSVD that currently remains a neuroimaging-based one.

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“…Only a few researchers have investigated constructional apraxia (CA)—that is, the inability to produce a complex figure by putting its parts in the correct spatial relationship (Kleist, 1934), occurring in visuoconstructional tests—in individuals with CADASIL (Zuluaga-Castaño et al, 2018). CA has been reported in individuals who are affected by cognitive deterioration (Da Silva et al, 2011; Song et al, 2014), but such impairments can also occur independently from general cognitive impairment. Ragno et al (2012) observed CA on visuoconstructional tests in asymptomatic individuals with CADASIL with mild cognitive decline.…”

mentioning

confidence: 99%

Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Lucia

Ragno²,

Paci³

et al. 2022

Cognitive and Behavioral Neurology

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Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small-vessel disease that is characterized by a wide range of neurologic and neuropsychological impairments. Constructional impairments have been reported in some cases but have never been assessed systematically. Objective: To evaluate constructional abilities and their cognitive and neural correlates in nondemented individuals with CADASIL. Method: Thirty individuals with CADASIL who were not affected by clinically relevant cognitive deterioration and 30 healthy controls (HC) underwent an extensive cognitive assessment and paper-and-pencil visuoconstructional tasks in order to detect constructional impairments. Performance on the visuoconstructional tasks was correlated with the cognitive assessment scores and with quantitative indices of regional gray matter atrophy (obtained via FreeSurfer image analysis) and white matter involvement. Results: The individuals with CADASIL achieved significantly lower scores on the cognitive assessment compared with the HC. Poor visuoconstructional abilities were observed in seven (23.3%) of the individuals with CADASIL when performing the copy drawing task and in nine (30%) when performing the Rey Complex Figure Test. Logistic regression revealed that visuoconstructional impairments were significantly associated with scores on the Frontal Assessment Battery and the Attentional Matrices Test. Morphometric results revealed that scores on the visuoconstructional tasks were related to gray matter atrophy of the left frontal lobe and right parietal lobe. Conclusion: Impairments on visuoconstructional tasks are quite common in individuals with CADASIL, even in the lack of clinically relevant cognitive deterioration, and are critically related to frontal and parietal atrophy.

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Cognitive Profile of CADASIL Patients with R544C Notch3 Mutation

Cited by 9 publications

References 19 publications

Parkinsonism is a new pattern onset of CADASIL patients carrying with R544C Mutation: a case report

Parkinsonism is a new pattern onset of CADASIL patients carrying with R544C Mutation: a case report

The clinical profile of cerebral small vessel disease: Toward an evidence‐based identification of cognitive markers

Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

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