title: A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
abstract: Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients.
authors: Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
authors: Efterpi
authors: E
authors: Pavlidou
authors: South West Thames Regional Genetics Laboratory, St George's Hospital, NHS Foundation Trust, London, United Kingdom.
authors: Vijaya
authors: V
authors: Ramachandran
authors: Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
authors: Veronica
authors: V
authors: Govender
authors: Department of Paediatric Ophthalmology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
authors: Clare
authors: C
authors: Wilson
authors: Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
authors: Rini
authors: R
authors: Das
authors: Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
authors: Victoria
authors: V
authors: Vlachou
authors: Department of Paediatric Neurology, 2nd Paediatric Department, A.H.E.P.A Hospital, Aristotle University of Thessaloniki, Greece.
authors: Evangelos
authors: E
authors: Pavlou
authors: South West Thames Regional Genetics Laboratory, St George's Hospital, NHS Foundation Trust, London, United Kingdom.
authors: Anand
authors: A
authors: Saggar
authors: Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
authors: Kshitij
authors: K
authors: Mankad
authors: Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom. Electronic address: m.kinali@imperial.ac.uk.
authors: Maria
authors: M
authors: Kinali
mesh_terms: D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D009900:Optic Nerve / Q000473:pathology*; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D035781:Siblings
chemical_list: D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human
keywords: Mutation; Optic nerve enlargement; PLP1 gene; Pelizaeus–Merzbacher disease