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. 2024 Jan;23(1):71-73.
doi: 10.12779/dnd.2024.23.1.71. Epub 2024 Jan 17.

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

Faheem Arshad  1 , Ashwin Prasad  1 , Aparna Somaraj  1 , Gautham Arunachal Udupi  2 , Subasree Ramakrishnan  1 , Suvarna Alladi  1
Affiliations

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

Faheem Arshad et al. Dement Neurocogn Disord. 2024 Jan.
No abstract available

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Conflict of interest statement

Conflict of Interest: The authors have no financial conflicts of interest.

Figures

Fig. 1
Fig. 1. (A) Impaired visuoconstruction ability in copying intersecting pentagons. (B, C) Brain magnetic resonance imaging axial T2 and fluid-attenuated inversion recovery sequence showing bilateral lacunar infarcts in the basal ganglia and thalamus with periventricular small vessel ischemic changes. (D) Susceptibility weighted image sequence showing evidence of blooming in left thalamus. (E) 18F-fluoro-deoxy glucose positron emission tomography image showing diffuse evidence of diffuse hypometabolism predominantly involving bilateral temporo-parietal regions. (F) Detailed pedigree chart of the family with the proband. (G) Clinical course of the patient from onset to presentation.
See this image and copyright information in PMC

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