Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review

Pan, L.; Chen, Yan; Zhao, Shanshan

doi:10.1186/s12883-022-02889-7

Cited by 3 publications

(1 citation statement)

References 23 publications

(24 reference statements)

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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

View full text Add to dashboard Cite

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CADASIL: A NOTCH3-associated cerebral small vessel disease

Yuan,

Chen,

Jankovic

et al. 2024

Journal of Advanced Research

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Case report: CADASIL with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy

Geng,

Li,

Guo

et al. 2023

Preprint

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Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease. It is caused by a NOTCH3 mutation and usually involves changes in cysteine residues. The clinical manifestations of CADASIL with cysteine-sparing mutations and seizures require further clarification because of the limited number of cases reported. Case presentation: The proband, a 66-year-old female, was admitted for secondary generalized tonic-clonic seizures (GTCSs) twice. Magnetic resonance imaging (MRI) showed severe white matter hyperintensity (WMH) sparing the temporal lobes and lacunar infarcts in the basal ganglia, but without microbleeds or brain atrophy, prompting the suspicion of CADASIL. Her medical history revealed that she had cognitive impairment for 31 years, migraine without aura for 26 years, and gait disturbances for six months before admission. Interictal video electroencephalogram revealed sporadic medium-amplitude sharp waves in the right temporal region. Although skin biopsy showed no granular osmiophilic material deposition, whole exome sequencing confirmed a c.1715C>T, p. Pro572Leu mutation on exon 11 of NOTCH3, and the diagnosis of CADASIL was made. Her son was confirmed to take the same mutation presented migraines without aura and mild cognitive impairment, but with normal MRI, while sanger sequencing denied the mutation in her two daughters. Consistent with relevant literature, WMH with less involvement of the temporal lobes may be characteristic of cysteine-sparing mutations. The lower incidence of epileptic seizures in CADASIL may be due to ischemic lesions and white matter lesions in the cortex or subcortex, or an independent clinical manifestation. In addition, GTCSs secondary to focal onset may be more common in patients with CADASIL. Conclusion: We firstly described a CADASIL patient with cysteine-sparing P572L mutation on exon 11 of NOTCH3 in detail and then provides novel insights on cysteine-sparing mutations in CADASIL, especially the presentation of GTCSs secondary to focal onset (temporal lobe).

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Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review

Cited by 3 publications

References 23 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

CADASIL: A NOTCH3-associated cerebral small vessel disease

Case report: CADASIL with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy

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