title: Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: John H
authors.initials: JH
authors.lastname: Livingston
authors.affiliation: Department of Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom.
authors.forename: Josephine
authors.initials: J
authors.lastname: Mayer
authors.affiliation: Department of Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Jenkinson
authors.affiliation: Department of Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom.
authors.forename: Paul
authors.initials: P
authors.lastname: Kasher
authors.affiliation: Imaging, Genomics and Proteomics Research Group, University of Manchester, Manchester, United Kingdom.
authors.forename: Stavros
authors.initials: S
authors.lastname: Stivaros
authors.affiliation: Department of Pediatric Neurology, Children's Hospital, Harlaching, Munich and University of Mainz, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Berger
authors.affiliation: Child Neuropsychiatry Unit, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Duccio M
authors.initials: DM
authors.lastname: Cordelli
authors.affiliation: Division of Medical Genetics, Alberta Children's Hospital, Calgary, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Ferreira
authors.affiliation: Department of Paediatrics, Royal Berkshire Hospital, Reading, United Kingdom.
authors.forename: Rosalind
authors.initials: R
authors.lastname: Jefferson
authors.affiliation: Department of Pediatrics and Neonatology, Universitätsklinikum des Saarlandes, Homburg, Germany.
authors.forename: Georg
authors.initials: G
authors.lastname: Kutschke
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
authors.forename: Staffan
authors.initials: S
authors.lastname: Lundberg
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia.
authors.forename: Katrin
authors.initials: K
authors.lastname: Ounap
authors.affiliation: Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors.forename: Prab
authors.initials: P
authors.lastname: Prabhakar
authors.affiliation: Department of Neuroradiology, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
authors.forename: Calvin
authors.initials: C
authors.lastname: Soh
authors.affiliation: Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Oxford, United Kingdom.
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
authors.affiliation: Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Jon
authors.initials: J
authors.lastname: Stone
authors.affiliation: Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
authors.forename: Hilda
authors.initials: H
authors.lastname: van Esch
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
authors.forename: Christine
authors.initials: C
authors.lastname: van Mol
authors.affiliation: North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Wakeling
authors.affiliation: Department of Paediatric Neurology, Southampton General Hospital, Southampton, United Kingdom.
authors.forename: Andrea
authors.initials: A
authors.lastname: Whitney
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis*; D002114:Calcinosis / Q000150:complications / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D056784:Leukoencephalopathies / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009422:Nervous System Diseases / Q000175:diagnosis*; D015898:Tomography Scanners, X-Ray Computed; D055815:Young Adult