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A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Autor: Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD

Publikováno v: Radiology Case Reports, Vol 18, Iss 3, Pp 1217-1220 (2023)

Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently

Externí odkaz: https://doaj.org/article/b22a1a9a07024e1ead5eaf1d2c102d44

Leukoencephalopathy with calcifications and cysts: a case study with long-term follow-up

Autor: Lomidze G; Institute of Neurology and Neuropsychology; Department of Neurology, Tbilisi, Georgia, Chutkerashvili G; Medical Center In-Nova; Department of Neurosurgery, Tbilisi, Georgia, Tskhvaradze S; AVERSI Clinic; Department of Neuroradiology, Tbilisi, Georgia, Gzirishvili N; Institute of Neurology and Neuropsychology; Department of Neurology, Tbilisi, Georgia, Kasradze S; Institute of Neurology and Neuropsychology; Department of Neurology, Tbilisi, Georgia; Caucasus International University; Faculty of Medicine, Tbilisi, Georgia

Publikováno v: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2022 Dec 01; Vol. 24 (6), pp. 1110-1115.

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P356: Overlapping movement disorder phenotypes are a hallmark of leukoencephalopathy with calcifications and cysts

Autor: Laura Tochen, Jennifer Harmon, Jason Schroeder, Jamie Fraser

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101250- (2024)

Externí odkaz: https://doaj.org/article/1773247b57b949369a929b86db5f1ba1