title: A novel autosomal dominant leukodystrophy with specific MRI pattern.
abstract: Etiologic diagnosis of adulthood leukodystrophy is challenging in neurologic practice. We describe here the clinico-radiological features of a novel autosomal dominant leukodystrophy in a single family. Clinical and MRI features were recorded in a three generation family. Exome sequencing was performed in two affected relatives and one healthy member. Four total relatives (3 women and 1 man, mean age at onset: 45, range 32-59) were followed: 2 for migraine and 2 for cognitive loss. MRI features were homogeneous in the four affected relatives: extensive and symmetrical white matter hyperintensities on T2-weighted images, with a posterior predominance, involvement of the middle cerebellar peduncles, corpus callosum and the posterior limb of the internal capsules. An extensive metabolic screening was negative. In addition, sequencing of pathogenic genes involved in dominant leukodystrophies (NOTCH3, LMNB1, GFAP, CSF1R) was negative. No mutation has been identified yet with exome sequencing. This report is peculiar because of dominant inheritance, adult onset, highly homogeneous white matter hyperintensities on T2-weighted MR images, predominant in the middle cerebellar peduncles and posterior part of internal capsule and absence of mutation of the genes involved in dominant leukodystrophies.
authors: Department of Neurology, CHU Gui de Chauliac, CHU Montpellier, 80 avenue Augustin Fliche, 34295, Montpellier Cedex 5, France, astrid.corlobe@gmail.com.
authors: A
authors: A
authors: Corlobé
authors: F
authors: F
authors: Taithe
authors: P
authors: P
authors: Clavelou
authors: E
authors: E
authors: Pierre
authors: C
authors: C
authors: Carra-Dallière
authors: X
authors: X
authors: Ayrignac
authors: K
authors: K
authors: Mouzat
authors: S
authors: S
authors: Lumbroso
authors: N
authors: N
authors: Menjot de Champfleur
authors: M
authors: M
authors: Koenig
authors: O
authors: O
authors: Boespflug-Tanguy
authors: P
authors: P
authors: Labauge
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D059472:Exome; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D034921:Lamin Type B / Q000235:genetics; D056784:Leukoencephalopathies / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; D034921:Lamin Type B; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch