Genetic diseases mimicking multiple sclerosis

Hsu, Chueh Lin; Iwanowski, Piotr; Hsu, Chueh Hsuan; Kozubski, Wojciech

doi:10.1080/00325481.2021.1945898

Cited by 3 publications

(2 citation statements)

References 219 publications

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“…Therefore, molecular genetic analysis combined with detailed neurological examinations and imaging will likely clarify the diagnosis. [ 22 ] From our group of patients pre-diagnosed with CADASIL, we detected clinically significant variants in 12% of the patients. This low rate can be attributed to the fact that CADASIL is a member of a heterogeneous group of neurological diseases.…”

Section: Discussionmentioning

confidence: 99%

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NOTCH3 Variants in Patients with Suspected CADASIL

Görükmez

Topak

et al. 2023

Annals of Indian Academy of Neurology

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Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous and is caused by NOTCH3 mutations. Methods: In this study, we analyzed NOTCH3 in 368 patients with suspected CADASIL using next-generation sequencing. The significant variants detected were reported along with the clinical and radiological features of the patients. Results: Heterozygous NOTCH3 changes, mostly missense mutations, were detected in 44 of the 368 patients (~12%). Conclusions: In this single-center study conducted on a large patient group, 30 different variants were detected, 17 of which were novel. CADASIL, which can result in mortality, has a heterogeneous phenotype among individuals in terms of clinical, demographic, and radiological findings regardless of the NOTCH3 variant.

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Section: Discussionmentioning

confidence: 99%

“…This low rate can be attributed to the fact that CADASIL is a member of a heterogeneous group of neurological diseases. [ 22 ]…”

Section: Discussionmentioning

confidence: 99%