Neuroimaging features of xeroderma pigmentosum group A.

Brain and Behavior
Takehiro UedaTatsushi Toda

Abstract

Xeroderma pigmentosum group A (XPA) is a hereditary dermatological disease in which hypersensitivity to ultraviolet radiation and various neurological symptoms are observed. In this study, to evaluate the degeneration occurring in the brain of XPA patients, neurological examinations by an established neurologist and 3-Tesla magnetic resonance imaging (MRI) were performed in 10 Japanese XPA patients. MRI studies included diffusion tensor imaging (DTI) and magnetic resonance spectroscopy (MRS) in addition to conventional sequences. Neurological examinations revealed various deteriorations in the both central and peripheral nervous systems in all subjects. MRI studies demonstrated age-dependent decline in multimodalities. Severe brain atrophy in conventional sequences, decreased fractional anisotropy (FA) value in DTI, and reduced NAA/Cre ratio in MRS were observed in the adult patients. Multimodal MRI studies unmask the neurological deterioration in XPA patients.

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Citations

Dec 4, 2013·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Kenichi OishiSusumu Mori
Apr 29, 2015·International Journal of Molecular Sciences·Karina Miranda SantiagoMaria Isabel Achatz
Jun 26, 2013·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Kenichi OishiSusumu Mori
Aug 20, 2016·Experimental Dermatology·Eiji NakanoChikako Nishigori
Dec 20, 2018·Photochemistry and Photobiology·Chikako NishigoriTakehiro Ueda
Jun 24, 2017·Immunity & Ageing : I & a·Jackson TaylorYongmei Liu
Apr 7, 2018·Cell Biology and Toxicology·Takeshi Terabayashi, Katsuhiro Hanada
Dec 14, 2018·Neuro-ophthalmology·Anna M Gruener, Ana M S Morley
Feb 28, 2017·Frontiers in Aging Neuroscience·Hitomi ShinomiyaKen-Ichi Nibu
Aug 5, 2017·The Journal of Dermatology·Shinichi MoriwakiUNKNOWN Xeroderma pigmentosum clinical practice guidelines revision committee

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