OBJECTIVE: To assess CNS abnormalities in patients with Werner's syndrome (WS) using MR metrics specific for tissue damage. BACKGROUND: WS is a rare autosomal recessive disorder that causes premature aging. The CNS involvement in this disease is still debated. METHODS: Two siblings who showed signs of neurological involvement underwent MR spectroscopic imaging (MRSI) and magnetization transfer (MT) imaging. Also, on conventional T1-weighted MR images, measurements of total brain volume were performed. RESULTS: Conventional MR images of both WS patients did not show abnormalities on visual inspection. However, both WS patients showed significantly lower values of normalized total brain volume and MT ratio in the white matter than age-matched normal controls. Also, proton MRSI showed significantly lower values of central brain NAA/Cr in WS patients than in normal controls. CONCLUSIONS: Our findings suggest that, despite normal appearance on conventional MRI, diffuse structural and metabolic tissue damage can be demonstrated in WS brains by means of sensitive MR methods even in patients with moderate or subclinical CNS involvement.
OBJECTIVE: To assess CNS abnormalities in patients with Werner's syndrome (WS) using MR metrics specific for tissue damage. BACKGROUND:WS is a rare autosomal recessive disorder that causes premature aging. The CNS involvement in this disease is still debated. METHODS: Two siblings who showed signs of neurological involvement underwent MR spectroscopic imaging (MRSI) and magnetization transfer (MT) imaging. Also, on conventional T1-weighted MR images, measurements of total brain volume were performed. RESULTS: Conventional MR images of both WSpatients did not show abnormalities on visual inspection. However, both WSpatients showed significantly lower values of normalized total brain volume and MT ratio in the white matter than age-matched normal controls. Also, proton MRSI showed significantly lower values of central brain NAA/Cr in WSpatients than in normal controls. CONCLUSIONS: Our findings suggest that, despite normal appearance on conventional MRI, diffuse structural and metabolic tissue damage can be demonstrated in WS brains by means of sensitive MR methods even in patients with moderate or subclinical CNS involvement.
Authors: Benjamin F J Verhaaren; Stéphanie Debette; Joshua C Bis; Jennifer A Smith; M Kamran Ikram; Hieab H Adams; Ashley H Beecham; Kumar B Rajan; Lorna M Lopez; Sandra Barral; Mark A van Buchem; Jeroen van der Grond; Albert V Smith; Katrin Hegenscheid; Neelum T Aggarwal; Mariza de Andrade; Elizabeth J Atkinson; Marian Beekman; Alexa S Beiser; Susan H Blanton; Eric Boerwinkle; Adam M Brickman; R Nick Bryan; Ganesh Chauhan; Christopher P L H Chen; Vincent Chouraki; Anton J M de Craen; Fabrice Crivello; Ian J Deary; Joris Deelen; Philip L De Jager; Carole Dufouil; Mitchell S V Elkind; Denis A Evans; Paul Freudenberger; Rebecca F Gottesman; Vilmundur Guðnason; Mohamad Habes; Susan R Heckbert; Gerardo Heiss; Saima Hilal; Edith Hofer; Albert Hofman; Carla A Ibrahim-Verbaas; David S Knopman; Cora E Lewis; Jiemin Liao; David C M Liewald; Michelle Luciano; Aad van der Lugt; Oliver O Martinez; Richard Mayeux; Bernard Mazoyer; Mike Nalls; Matthias Nauck; Wiro J Niessen; Ben A Oostra; Bruce M Psaty; Kenneth M Rice; Jerome I Rotter; Bettina von Sarnowski; Helena Schmidt; Pamela J Schreiner; Maaike Schuur; Stephen S Sidney; Sigurdur Sigurdsson; P Eline Slagboom; David J M Stott; John C van Swieten; Alexander Teumer; Anna Maria Töglhofer; Matthew Traylor; Stella Trompet; Stephen T Turner; Christophe Tzourio; Hae-Won Uh; André G Uitterlinden; Meike W Vernooij; Jing J Wang; Tien Y Wong; Joanna M Wardlaw; B Gwen Windham; Katharina Wittfeld; Christiane Wolf; Clinton B Wright; Qiong Yang; Wei Zhao; Alex Zijdenbos; J Wouter Jukema; Ralph L Sacco; Sharon L R Kardia; Philippe Amouyel; Thomas H Mosley; W T Longstreth; Charles C DeCarli; Cornelia M van Duijn; Reinhold Schmidt; Lenore J Launer; Hans J Grabe; Sudha S Seshadri; M Arfan Ikram; Myriam Fornage Journal: Circ Cardiovasc Genet Date: 2015-02-07
Authors: Xiangru Xu; Ming Zhan; Wenzhen Duan; Vinayakumar Prabhu; Randall Brenneman; William Wood; Jeff Firman; Huai Li; Peisu Zhang; Carol Ibe; Alan B Zonderman; Dan L Longo; Suresh Poosala; Kevin G Becker; Mark P Mattson Journal: Genome Biol Date: 2007 Impact factor: 13.583