MRI brain volume measurements in infantile neuronal ceroid lipofuscinosis
EH Baker, SW Levin, Z Zhang… - American Journal of …, 2017 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating
neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency …
neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency …
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study
AM Tokola, EK Salli, LE Åberg, TH Autti - Pediatric neurology, 2014 - Elsevier
Background Juvenile neuronal ceroid lipofuscinosis is an inherited, autosomal recessive,
progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage …
progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage …
Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression
U Löbel, J Sedlacik, M Nickel… - American Journal …, 2016 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal,
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …
Global and widespread local white matter abnormalities in juvenile neuronal ceroid lipofuscinosis
BACKGROUND AND PURPOSE: Juvenile neuronal ceroid lipofuscinosis is a progressive
neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision …
neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision …
Evaluation of disease progression in INCL by MR spectroscopy
EH Baker, SW Levin, Z Zhang… - Annals of clinical and …, 2015 - Wiley Online Library
Objective Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative
storage disease caused by palmitoyl‐protein thioesterase‐1 deficiency, which impairs …
storage disease caused by palmitoyl‐protein thioesterase‐1 deficiency, which impairs …
Brain region–specific degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis (CLN2 disease)
BACKGROUND AND PURPOSE: Late infantile neuronal ceroid lipofuscinosis (CLN2
disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 …
disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 …
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 1: postmortem MRI with histopathologic correlation
SL Vanhanen, R Raininko… - Journal of Child …, 1995 - journals.sagepub.com
The purpose of this study was to correlate postmortem magnetic resonance imaging (MRI)
with histopathologic findings in brains of a series of autopsied patients with infantile …
with histopathologic findings in brains of a series of autopsied patients with infantile …
MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis.
D Seitz, W Grodd, A Schwab… - American journal …, 1998 - Am Soc Neuroradiology
PURPOSE Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal
neurodegenerative disorder caused by the accumulation of lipopigment in neurons. Our …
neurodegenerative disorder caused by the accumulation of lipopigment in neurons. Our …
JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence
TH Autti, J Hämäläinen, M Mannerkoski… - Journal of …, 2008 - Springer
Abstract 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 …
disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume …
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis: part 2: MRI findings in 21 patients
SL Vanhanen, R Raininko, T Autti… - Journal of child …, 1995 - journals.sagepub.com
The purpose of this study was to demonstrate the course of infantile neuronal ceroid-
lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 …
lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 …