The Neuroimaging Studies of a Patient of 16q12.2q21 Deletion Involving GNAO1 Gene with Non-Progressive Dystonia

Nakamura H, Kawashima A, Ikeda M, Katata Y, Okubo Y, Endo W, Inui T, Togashi N, Kitami M, Hamanaka K, Miyatake S, Matsumoto N, Kikuchi A, Kure S and Haginoya K*

Department of Pediatric Neurology, Miyagi Children’s Hospital, Sendai, Japan
Department of Radiology, Miyagi Children’s Hospital, Sendai, Japan
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

^*Correspondance to: Kazuhiro Haginoya 

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Abstract:

We report a patient with late-onset non-progressive dystonia that developed at the age of 12 years, associated with 16q12 deletions involving GNAO1. This patient demonstrated unique neuroimaging findings, including narrowed bilateral carotid arteries, high T2WI and FLAIR signal intensity of the periventricular white matter, and cerebral hypoperfusion of the bilateral periventricular white matter, basal ganglia, and frontal cortices. It remains unclear whether these findings are related to the deletion of GNAO1 or other genes.

Keywords:

 GNAO1; Dystonia; 16q12 Deletion; Neuroimaging; SPECT; MRI angiography

Cite the Article:

Nakamura H, Kawashima A, Ikeda M, Katata Y, Okubo Y, Endo W, et al. The Neuroimaging Studies of a Patient of 16q12.2q21 Deletion Involving GNAO1 Gene with Non-Progressive Dystonia. Clin Case Rep Int. 2025; 9: 1737.