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.
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Conflicts of interest
A. Corlobé reports no disclosures. F. Taithe reports no disclosures. P. Clavelou reports no disclosures. E. Pierre reports no disclosures. C. Carra-Dallière reports no disclosures. X. Ayrignac reports no disclosures. K. Mouzat reports no disclosures. S. Lumbroso reports no disclosures. N. Menjot de Champfleur reports no disclosures. M. Koenig reports no disclosures. O. Boespflug-Tanguy reports no disclosures. P. Labauge reports no disclosures.
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Our study was conducted according to the principles of the Declaration of Helsinki. Written informed consent was obtained by the subjects and this study considered Declaration of Helsinki as a statement of ethical principles.
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Corlobé, A., Taithe, F., Clavelou, P. et al. A novel autosomal dominant leukodystrophy with specific MRI pattern. J Neurol 262, 988–991 (2015). https://doi.org/10.1007/s00415-015-7660-4
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DOI: https://doi.org/10.1007/s00415-015-7660-4