UNLABELLED: Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume alterations in JNCL. Six patients (mean ages of 12.4 years and 17.3 years) and 12 healthy controls were studied twice with 1.5 T MRI. White matter (WM), gray matter (GM) and CSF volumes were measured from the sets of T1-weighted 3-dimensional MR images using a fully automated image-processing procedure. The brain volume alterations were calculated as percentage change per year. The GM and whole brain volumes decreased and the CSF volume increased significantly more in the patients than in controls (p-values for the null hypothesis of equal means were 0.001, 0.004, and 0.005, respectively). We found no difference in the WM volume change between the populations. In patients, the GM volume decreased 2.4 % (SD 0.5 %, p 0.0001 for the null hypothesis of zero mean change between observations), the whole brain volume decreased 1.1 % (SD 0.5 %, p = 0.003), and the CSF volume increased 2.7 % (SD 1.8 %, p = 0.01) per year. In normal controls, only the mean white matter volume was significantly altered (0.8 % increase, SD 0.7 %, and p = 0.001). CONCLUSION: We demonstrated by longitudinal MRI that the annual rate of the gray matter loss in adolescent JNCL patients is as high as 2.4 %.
UNLABELLED: Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume alterations in JNCL. Six patients (mean ages of 12.4 years and 17.3 years) and 12 healthy controls were studied twice with 1.5 T MRI. White matter (WM), gray matter (GM) and CSF volumes were measured from the sets of T1-weighted 3-dimensional MR images using a fully automated image-processing procedure. The brain volume alterations were calculated as percentage change per year. The GM and whole brain volumes decreased and the CSF volume increased significantly more in the patients than in controls (p-values for the null hypothesis of equal means were 0.001, 0.004, and 0.005, respectively). We found no difference in the WM volume change between the populations. In patients, the GM volume decreased 2.4 % (SD 0.5 %, p 0.0001 for the null hypothesis of zero mean change between observations), the whole brain volume decreased 1.1 % (SD 0.5 %, p = 0.003), and the CSF volume increased 2.7 % (SD 1.8 %, p = 0.01) per year. In normal controls, only the mean white matter volume was significantly altered (0.8 % increase, SD 0.7 %, and p = 0.001). CONCLUSION: We demonstrated by longitudinal MRI that the annual rate of the gray matter loss in adolescent JNCLpatients is as high as 2.4 %.
Authors: J N Giedd; J Blumenthal; N O Jeffries; F X Castellanos; H Liu; A Zijdenbos; T Paus; A C Evans; J L Rapoport Journal: Nat Neurosci Date: 1999-10 Impact factor: 24.884
Authors: Rhoshel K Lenroot; Nitin Gogtay; Deanna K Greenstein; Elizabeth Molloy Wells; Gregory L Wallace; Liv S Clasen; Jonathan D Blumenthal; Jason Lerch; Alex P Zijdenbos; Alan C Evans; Paul M Thompson; Jay N Giedd Journal: Neuroimage Date: 2007-04-06 Impact factor: 6.556
Authors: Anna M Hedman; Neeltje E M van Haren; Hugo G Schnack; René S Kahn; Hilleke E Hulshoff Pol Journal: Hum Brain Mapp Date: 2011-09-13 Impact factor: 5.038
Authors: Amy Aldrich; Megan E Bosch; Rachel Fallet; Jessica Odvody; Maria Burkovetskaya; Kakulavarapu V Rama Rao; Jonathan D Cooper; Arlene V Drack; Tammy Kielian Journal: Ann Neurol Date: 2016-11-23 Impact factor: 10.422
Authors: Michela Palmieri; Rituraj Pal; Hemanth R Nelvagal; Parisa Lotfi; Gary R Stinnett; Michelle L Seymour; Arindam Chaudhury; Lakshya Bajaj; Vitaliy V Bondar; Laura Bremner; Usama Saleem; Dennis Y Tse; Deepthi Sanagasetti; Samuel M Wu; Joel R Neilson; Fred A Pereira; Robia G Pautler; George G Rodney; Jonathan D Cooper; Marco Sardiello Journal: Nat Commun Date: 2017-02-06 Impact factor: 14.919
Authors: Genevieve A Wright; Michalis Georgiou; Anthony G Robson; Naser Ali; Ambreen Kalhoro; Sm Kleine Holthaus; Nikolas Pontikos; Ngozi Oluonye; Emanuel R de Carvalho; Magella M Neveu; Richard G Weleber; Michel Michaelides Journal: Ophthalmol Retina Date: 2019-11-13
Authors: Jan-Niklas Hochstein; A Schulz; M Nickel; S Lezius; M Grosser; J Fiehler; J Sedlacik; U Löbel Journal: Neuroradiology Date: 2022-06-14 Impact factor: 2.995