Hippocampal Volumes in Juvenile Neuronal Ceroid Lipofuscinosis: A Longitudinal Magnetic Resonance Imaging Study

Tokola, Anna; Salli, Eero; Åberg, L.; Autti, Taina

doi:10.1016/j.pediatrneurol.2013.10.013

Cited by 18 publications

(18 citation statements)

References 37 publications

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“…17 Related to the general brain atrophy, thinning of the corpus callosum is also present in CLN3. 15 In this study, we investigated CLN3 for the first time with DW-MRI. For the global analyses, we used 2 different approaches, fiber tractography and white matter tract skeleton.…”

Section: Discussionmentioning

confidence: 99%

“…14 Conventional MR imaging findings are usually normal at younger than 10 years of age. 15 Previous MR imaging studies have reported cerebral and cerebellar atrophy, progressive hippocampal atrophy, decreased gray matter volume in the dorsomedial part of the thalami, and decreased white matter volume in the corona radiata in patients with CLN3. [15][16][17] However, cerebral atrophy is mostly seen in patients older than 14 years of age, and cerebellar atrophy, even later.…”

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confidence: 91%

“…15 Previous MR imaging studies have reported cerebral and cerebellar atrophy, progressive hippocampal atrophy, decreased gray matter volume in the dorsomedial part of the thalami, and decreased white matter volume in the corona radiata in patients with CLN3. [15][16][17] However, cerebral atrophy is mostly seen in patients older than 14 years of age, and cerebellar atrophy, even later. 15 In a postmortem study, higher MR imaging signal intensity of the periventricular white matter was reported with histologically observed severe periventricular loss of myelin and gliosis.…”

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confidence: 91%

“…[15][16][17] However, cerebral atrophy is mostly seen in patients older than 14 years of age, and cerebellar atrophy, even later. 15 In a postmortem study, higher MR imaging signal intensity of the periventricular white matter was reported with histologically observed severe periventricular loss of myelin and gliosis. 18 Thalamic alterations have been consistently found in several types of neuronal ceroid lipofuscinosis (NCL), including CLN1 (infantile NCL), CLN2 (classic late infantile NCL), CLN3 (juvenile NCL), CLN5 (Finnish-variant late infantile NCL), and CLN7 (Turkish-variant late infantile NCL).…”

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confidence: 99%

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Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Roine

Hakkarainen

et al. 2018

AJNR Am J Neuroradiol

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Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Roine

Hakkarainen

et al. 2018

AJNR Am J Neuroradiol

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“…18 Previous MR imaging studies in patients with CLN3 reported cerebral and cerebellar atrophy, progressive hippocampal atrophy, alterations of the thalami, and decreased white matter volume in the corona radiata. [19][20][21] In a postmortem study, higher MR imaging signal intensity of the periventricular white matter was reported, together with histologically observed severe periventricular loss of myelin and gliosis. 22 We recently investigated the white matter microstructure of the brain in children with CLN3 23 and found significant global and widespread local differences by using tract-based spatial statistics 2 and whole-brain tractography, 7 even though conventional MR imaging is usually visually normal in patients aged ,10 years.…”

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Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis

Roine

Roine²,

Tokola³

et al. 2019

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: We used diffusion MR imaging to investigate the structural brain connectivity networks in juvenile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood. Although changes in conventional MR imaging are typically not visually apparent in children aged ,10 years, we previously found significant microstructural abnormalities by using diffusion MR imaging. Therefore, we hypothesized that the structural connectivity networks would also be affected in the disease. MATERIALS AND METHODS: We acquired diffusion MR imaging data from 14 children with juvenile neuronal ceroid lipofuscinosis (mean 6 SD age, 9.6 6 3.4 years; 10 boys) and 14 control subjects (mean 6 SD age, 11.2 6 2.3 years; 7 boys). A follow-up MR imaging was performed for 12 of the patients (mean 6 SD age, 11.4 6 3.2 years; 8 boys). We used graph theoretical analysis to investigate the global and local properties of the structural brain connectivity networks reconstructed with constrained spherical deconvolution-based whole-brain probabilistic tractography. RESULTS: We found significantly increased characteristic path length (P = .003) and decreased degree (P = .003), which indicated decreased network integration and centrality in children with juvenile neuronal ceroid lipofuscinosis. The findings were similar for the follow-up MR imaging, and there were no significant differences between the two acquisitions of the patients. In addition, we found that the disease severity correlated negatively (P , .007) with integration, segregation, centrality, and small-worldness of the networks. Moreover, we found significantly (P , .0003) decreased local efficiency in the left supramarginal gyrus and temporal plane, and decreased strength in the right lingual gyrus. CONCLUSIONS: We found significant global and local network alterations in juvenile neuronal ceroid lipofuscinosis that correlated with the disease severity and in areas related to the symptomatology.

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Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker

et al. 2022

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Purpose Grey matter (GM) atrophy due to neuronal loss is a striking feature of patients with CLN3 disease. A precise and quantitative description of disease progression is needed in order to establish an evaluation tool for current and future experimental treatments. In order to develop a quantitative marker to measure brain volume outcome, we analysed the longitudinal volumetric development of GM, white matter (WM) and lateral ventricles and correlated those with the clinical course. Methods One hundred twenty-two MRI scans of 35 patients (21 females; 14 males; age 15.3 ± 4.8 years) with genetically confirmed CLN3 disease were performed. A three-dimensional T1-weighted sequence was acquired with whole brain coverage. Volumetric segmentation of the brain was performed with the FreeSurfer image analysis suite. The clinical severity was assessed by the Hamburg jNCL score, a disease-specific scoring system. Results The volumes of supratentorial cortical GM and supratentorial WM, cerebellar GM, basal ganglia/thalamus and hippocampus significantly (r = − 0.86 to − 0.69, p < 0.0001) decreased with age, while the lateral ventricle volume increased (r = 0.68, p < 0.0001). Supratentorial WM volume correlated poorer with age (r = − 0.56, p = 0.0001). Supratentorial cortical GM volume showed the steepest (4.6% (± 0.2%)) and most uniform decrease with strongest correlation with age (r = − 0.86, p < 0.0001). In addition, a strong correlation with disease specific clinical scoring existed for the supratentorial cortical GM volume (r = 0.85, p = < 0.0001). Conclusion Supratentorial cortical GM volume is a sensitive parameter for assessment of disease progression even in early and late disease stages and represents a potential reliable outcome measure for evaluation of experimental therapies.

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Hippocampal Volumes in Juvenile Neuronal Ceroid Lipofuscinosis: A Longitudinal Magnetic Resonance Imaging Study

Cited by 18 publications

References 37 publications

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis

Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis

Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker

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