This case provides a detailed clinical and imaging description of CADASIL associated with NOTCH3 c.3313G > T (p.Gly1105Cys) and expands understanding of genotype–phenotype correlations among exon 20 variants and found marked phenotypic heterogeneity across variants and populations.
This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.
Vincenzo Sortino, A. Sapuppo, Anastasia Bernabini et al.· Neurogenetics· 0 citations
This case underscores CADASIL's diagnostic complexities, especially with comorbid genetic factors and atypical presentations like early epilepsy, stressing the need for multidisciplinary care and individualized risk-benefit assessments in management.
Sinem Fidan Buçin, Hatice Karaer Ünaldi, Fatma Nur Birgin et al.· Sanatorium Medical Journal· 0 citations
The broad clinical spectrum associated with the SEPTIN9 R106W mutation in a Chinese pedigree spanning from childhood to adulthood is delineated, highlighting the critical role of active inter vention in childhood-onset HNA.
Jing Chen, Shuang Chen, Xin-Yi Zhu et al.· Frontiers in Genetics· 0 citations
These findings broaden the neurovascular spectrum of SLC2A10-related ATS and demonstrate that p.(Trp162Ter) severely disrupts GLUT10 architecture, topology, and ligand binding.
Serdar Bozlak, Cüneyd Yavaş, Evrim Yalcin et al.· International Journal of Mol...· 0 citations
The first genetically confirmed Iranian patient, an 18‐month‐old boy presenting with profound developmental delay, axial hypotonia, limb hypertonia, dystonia, oculogyric crises, ptosis, and autonomic dysfunction is reported, expanding the mutational spectrum of SLC18A2‐related disease and highlighting the importance of...
Ali Nikkhah, R. Badv, S. Habibi et al.· Case Reports in Neurological...· 0 citations
The novel NR2F1 variant was classified as likely pathogenic according to ACMG guidelines, confirming the diagnosis of BBSOAS and the ARF3 variant, identified as a secondary finding of uncertain clinical significance, is unlikely to account for the patient's phenotype.
Sina Babaei, Haneieh Honarmand, M. Bonyadi et al.· Molecular Biology Reports· 0 citations
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