The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum.

PloS One
Jan KassubekM Berneburg

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. We present the clinical neurological phenotype in 14 XP patients (seven subtypes), in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy ((1)H MRS), and diffusion tensor imaging (DTI). Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, (1)H MRS demonstrated that the hippocampal formation was metabolically altered. The most prominent feature was the whi...Continue Reading

References

Aug 1, 1990·Brain : a Journal of Neurology·T KandaH Tsukagoshi
Apr 1, 1986·Photochemistry and Photobiology·J K Sullivan, G J Kantor
Jan 1, 1997·Human Mutation·T KobayashiK Tanaka
Jun 17, 1999·Journal of the Neurological Sciences·R P Grewal
Sep 21, 2000·The Journal of Investigative Dermatology·C Petit-FrèreC F Arlett
Oct 19, 2000·Advances in Genetics·M Berneburg, A R Lehmann
Feb 24, 2001·Neurology·I RapinJ H Robbins
Apr 25, 2001·European Journal of Clinical Pharmacology·D GaistS H Sindrup
May 9, 2001·Mutation Research·D Bootsma
Jan 5, 2002·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Y LindenbaumI Rapin
May 8, 2002·Nature Reviews. Neuroscience·Matthew BrettAdrian M Owen
Jun 13, 2002·The Journal of Investigative Dermatology·Steffen EmmertKenneth H Kraemer
Sep 3, 2004·Nature Reviews. Cancer·Mats Ljungman, David P Lane
Oct 28, 2004·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·Yuji ShenJoseph V Hajnal
Nov 13, 2004·Journal of Neuropathology and Experimental Neurology·Masaharu HayashiKimiko Tamagawa
Mar 1, 2005·Cell·Thomas B L Kirkwood
Aug 3, 2005·Nature Reviews. Cancer·James E Cleaver
Dec 13, 2006·Neuroscience·K Subba Rao
Dec 22, 2006·Nature·Laura J NiedernhoferJan H J Hoeijmakers
May 15, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·A ChiòUNKNOWN PARCIDP
Jun 15, 2007·Journal of Exposure Science & Environmental Epidemiology·A N I GarrodC W Davy
Sep 25, 2007·Cell·Ulrich RassStephen C West
Jun 10, 2008·Mechanisms of Ageing and Development·Laura J Niedernhofer
Jun 24, 2008·Brain : a Journal of Neurology·Anu AnttinenReijo J Marttila
Jul 10, 2008·Developmental Medicine and Child Neurology·Mark W Greenlee
Jul 10, 2008·Developmental Medicine and Child Neurology·Andrea G LudolphJan Kassubek

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Citations

Aug 26, 2015·Nature Reviews. Gastroenterology & Hepatology·Emeran A MayerPierre Baldi

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Software Mentioned

vox
LCModel®
MATLAB
Tensor Imaging and Fiber Tracking ( TIFT )
MRreg
MATLAB®
SPM
spec
SPM99
Statistical Package for the Social Sciences software ( SPSS

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