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Leukoencephalopathy with Calcifications and Cysts : A Purely Neurological Disorder Distinct from Coats Plus

Livingston, John H (författare)
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom
Mayer, Josephine (författare)
Department of Genetic Medicine, University of Manchester, United Kingdom
Jenkinson, Emma (författare)
Department of Genetic Medicine, University of Manchester, United Kingdom
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Kasher, Paul (författare)
Department of Genetic Medicine, University of Manchester, United Kingdom
Stivaros, Stavros (författare)
Imaging, Genomics and Proteomics Research Group, University of Manchester, United Kingdom
Berger, Andrea (författare)
Department of Pediatric Neurology, Children’s Hospital, Harlaching, Munich and University of Mainz, Germany
Cordelli, Duccio M (författare)
Child Neuropsychiatry Unit, University of Bologna, Italy
Ferreira, Patrick (författare)
Division of Medical Genetics, Alberta Children’s Hospital, Calgary, Canada
Jefferson, Rosalind (författare)
Department of Paediatrics, Royal Berkshire Hospital, Reading, United Kingdom
Kutschke, Georg (författare)
Department of Pediatrics and Neonatology, Universitätsklinikum des Saarlandes, Homburg, Germany
Lundberg, Staffan, 1956- (författare)
Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten
Ounap, Katrin (författare)
Department of Genetics, Tartu University Hospital, Estonia
Prabhakar, Prab (författare)
Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
Soh, Calvin (författare)
Department of Neuroradiology, Salford Royal NHS Foundation Trust, United Kingdom
Stewart, Helen (författare)
Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, United Kingdom
Stone, Jon (författare)
Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom
van der Knaap, Marjo S (författare)
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
van Esch, Hilda (författare)
Center for Human Genetics, University Hospitals Leuven, Belgium
van Mol, Christine (författare)
Center for Human Genetics, University Hospitals Leuven, Belgium
Wakeling, Emma (författare)
North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, United Kingdom
Whitney, Andrea (författare)
Department of Paediatric Neurology, Southampton General Hospital, United Kingdom
Rice, Gillian I (författare)
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom
Crow, Yanick J (författare)
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom
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 (creator_code:org_t)
2014
2014
Engelska.
Ingår i: Neuropediatrics. - 0174-304X .- 1439-1899. ; 45:3, s. 175-182
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

intracranial calcification
leukoencephalopathy
coats plus

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