Title: Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
Authors: Livingston, John H ×
Mayer, Josephine
Jenkinson, Emma
Kasher, Paul
Stivaros, Stavros
Berger, Andrea
Cordelli, Duccio M
Ferreira, Patrick
Jefferson, Rosalind
Kutschke, Georg
Lundberg, Staffan
Ounap, Katrin
Prabhakar, Prab
Soh, Calvin
Stewart, Helen
Stone, Jon
van der Knaap, Marjo S
Van Esch, Hilde
van Mol, Christine
Wakeling, Emma
Whitney, Andrea
Rice, Gillian I
Crow, Yanick J #
Issue Date: Jun-2014
Publisher: Hippokrates Verlag
Series Title: Neuropediatrics vol:45 issue:3 pages:175-82
Abstract: 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 distinct genetic entity. Patients and Methods A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described. Results The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy. Conclusion LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.
ISSN: 0174-304X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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