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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Leukoencephalopathy with calcifications and cysts: A case report with literature review.
Li J, Li C, Zhang Q, Qiu C. Li J, et al. Neurol Sci. 2023 Aug;44(8):2715-2729. doi: 10.1007/s10072-023-06776-y. Epub 2023 Apr 1. Neurol Sci. 2023. PMID: 37004603 Review.
Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. ...
Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present th …
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 …
Leukoencephalopathy, cerebral calcifications and cysts: a family study.
Karlinger K, Tárnoki ÁD, Tárnoki DL, Polvi A, Lehesjoki AE, Kelemen A, Szegedi L, Turányi E, Kamondi A, Szűcs A. Karlinger K, et al. J Neurol. 2014 Oct;261(10):1911-6. doi: 10.1007/s00415-014-7393-9. Epub 2014 Jul 18. J Neurol. 2014. PMID: 25034270
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by epilepsy, cerebral calcifications and cysts, bone abnormalities; progressive neuro-cognitive deterioration and paranasal …
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndro …
Leukoencephalopathy with calcifications and cysts: A case report.
Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S. Ma Y, et al. Medicine (Baltimore). 2017 Jul;96(29):e7597. doi: 10.1097/MD.0000000000007597. Medicine (Baltimore). 2017. PMID: 28723803 Free PMC article.
RATIONALE: Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. ...
RATIONALE: Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by …
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ. Livingston JH, et al. Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9. Neuropediatrics. 2014. PMID: 24407470
OBJECTIVE: With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distin …
OBJECTIVE: With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP …
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.
Helman G, Viaene AN, Takanohashi A, Breur M, Berger R, Woidill S, Cottrell JR, Schiffmann R, Crow YJ, Simons C, Bugiani M, Vanderver A. Helman G, et al. J Child Neurol. 2021 Feb;36(2):133-140. doi: 10.1177/0883073820958330. Epub 2020 Sep 28. J Child Neurol. 2021. PMID: 32988269
Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. ...
Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated wi …
Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development.
Li Z, Han K, Yao W, Wei W, Li Y, Lan X. Li Z, et al. World Neurosurg. 2016 Jan;85:366.e9-13. doi: 10.1016/j.wneu.2015.09.049. Epub 2015 Sep 25. World Neurosurg. 2016. PMID: 26407930 Review.
BACKGROUND: An uncommon disorder, adult-onset leukoencephalopathy with calcifications and cysts (ALCC) has been recognized clinically for approximately a decade. ...
BACKGROUND: An uncommon disorder, adult-onset leukoencephalopathy with calcifications and cysts (ALCC) ha …
17 results