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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. Crow YJ, et al. Am J Med Genet A. 2021 Jan;185(1):15-25. doi: 10.1002/ajmg.a.61907. Epub 2020 Oct 7. Am J Med Genet A. 2021. PMID: 33029936
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and t …
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications …
Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
Osman O, Labrune P, Reiner P, Sarov M, Nasser G, Riant F, Tournier-Lasserve E, Chabriat H, Denier C. Osman O, et al. Rev Neurol (Paris). 2020 Mar;176(3):170-179. doi: 10.1016/j.neurol.2019.06.006. Epub 2019 Sep 11. Rev Neurol (Paris). 2020. PMID: 31521395 Review.
INTRODUCTION: Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive cerebral angiomatous-like microangiopathy characterized by diffuse and asymmetric white-matter lesions associated with multiple calcifications an …
INTRODUCTION: Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive cereb …
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.
Fay AJ, King AA, Shimony JS, Crow YJ, Brunstrom-Hernandez JE. Fay AJ, et al. Pediatr Neurol. 2017 Jun;71:56-59. doi: 10.1016/j.pediatrneurol.2017.03.008. Epub 2017 Mar 23. Pediatr Neurol. 2017. PMID: 28424147 Free PMC article.
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. ...CONCLUSIONS: Further studies in a …
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral mic …
Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions.
Renard D, Brochet B, Vukusic S, Edan G, Deburghgraeve V, Goizet C, Dupuy D, Touze E, Deschamps R, Zephyr H, Creange A, Castelnovo G, Boespflug-Tanguy O, Labauge P. Renard D, et al. Eur Neurol. 2012;68(3):156-61. doi: 10.1159/000338476. Epub 2012 Aug 14. Eur Neurol. 2012. PMID: 22907640
Cavitary white matter changes may be seen in megalencephalic leukoencephalopathy with subcortical cysts, Alexander disease, mitochondrial leukoencephalopathies, vanishing white matter disease, leukoencephalopathy with calcifications and cysts, c …
Cavitary white matter changes may be seen in megalencephalic leukoencephalopathy with subcortical cysts, Alexander disease, mitochondrial le …
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Della Vecchia S, Tessa A, Pasquariello R, Seabra L, Crow YJ, Battini R. Della Vecchia S, et al. Int J Mol Sci. 2024 Mar 1;25(5):2864. doi: 10.3390/ijms25052864. Int J Mol Sci. 2024. PMID: 38474113 Free PMC article. Review.
Our patient presents clinical features consistent with other reported cases with NOTCH1 mutations but is among the minority of patients with an onset after infancy. During the five-year follow-up, we observed an increase in the severity of spasticity and ataxia. However, a …
Our patient presents clinical features consistent with other reported cases with NOTCH1 mutations but is among the minority of patients with …