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Leena Peltonen - One of the best experts on this subject based on the ideXlab platform.
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Lysosomal localization of the Neuronal Ceroid Lipofuscinosis CLN5 protein
Human molecular genetics, 2002Co-Authors: J Isosomppi, Jouni Vesa, Anu Jalanko, Leena PeltonenAbstract:The Finnish variant late infantile Neuronal Ceroid Lipofuscinosis (vLINCL) belongs to the Neuronal Ceroid Lipofuscinosis group of common recessively inherited neurodegenerative disorders. The CLN 5 gene responsible for this brain disorder codes for a novel protein with no homology to previously reported proteins. In this study, we have investigated the biosynthesis and intracellular localization of this protein in transiently transfected BHK-21 cells using a CLN5-specific peptide antibody. Confocal immunofluorescence microscopy showed that wild-type CLN5 is predominantly targeted to lysosomes and immunoprecipitation analysis recognized a 60 kDa polypeptide. The molecular weight of this protein was reduced to 40 kDa by deglycosylation with Endo H and to 38 kDa with PNGase F. The same-sized glycosylated polypeptides were also observed in the media, suggesting that the 60 kDa glycosylated CLN5 polypeptide represents a soluble lysosomal glycoprotein, not an integral transmembrane protein as predicted earlier. The most common human vLINCL mutation blocked the lysosomal targeting of expressed polypeptides. This would imply that the pathogenesis of vLINCL would be associated with the defective lysosomal trafficking, preventing the normal biological function of the corresponding polypeptide.
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lysosomal localization of the Neuronal Ceroid Lipofuscinosis cln5 protein
Human Molecular Genetics, 2002Co-Authors: J Isosomppi, Jouni Vesa, Anu Jalanko, Leena PeltonenAbstract:The Finnish variant late infantile Neuronal Ceroid Lipofuscinosis (vLINCL) belongs to the Neuronal Ceroid Lipofuscinosis group of common recessively inherited neurodegenerative disorders. The CLN 5 gene responsible for this brain disorder codes for a novel protein with no homology to previously reported proteins. In this study, we have investigated the biosynthesis and intracellular localization of this protein in transiently transfected BHK-21 cells using a CLN5-specific peptide antibody. Confocal immunofluorescence microscopy showed that wild-type CLN5 is predominantly targeted to lysosomes and immunoprecipitation analysis recognized a 60 kDa polypeptide. The molecular weight of this protein was reduced to 40 kDa by deglycosylation with Endo H and to 38 kDa with PNGase F. The same-sized glycosylated polypeptides were also observed in the media, suggesting that the 60 kDa glycosylated CLN5 polypeptide represents a soluble lysosomal glycoprotein, not an integral transmembrane protein as predicted earlier. The most common human vLINCL mutation blocked the lysosomal targeting of expressed polypeptides. This would imply that the pathogenesis of vLINCL would be associated with the defective lysosomal trafficking, preventing the normal biological function of the corresponding polypeptide.
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cln5 a novel gene encoding a putative transmembrane protein mutated in finnish variant late infantile Neuronal Ceroid Lipofuscinosis
Nature Genetics, 1998Co-Authors: Minna Savukoski, Tuomas Klockars, Eric S. Lander, Pirkko Santavuori, Ville Holmberg, Leena PeltonenAbstract:CLN5 , a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile Neuronal Ceroid Lipofuscinosis
Taina Autti - One of the best experts on this subject based on the ideXlab platform.
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Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis.
AJNR. American journal of neuroradiology, 2019Co-Authors: Timo Roine, Ulrika Roine, Anna Tokola, Marja H. Balk, Minna Mannerkoski, L. Åberg, Tuula Lönnqvist, Taina AuttiAbstract: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 MATERIALS AND METHODS: We acquired diffusion MR imaging data from 14 children with juvenile Neuronal Ceroid Lipofuscinosis (mean ± SD age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean ± SD age, 11.2 ± 2.3 years; 7 boys). A follow-up MR imaging was performed for 12 of the patients (mean ± SD age, 11.4 ± 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 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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Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis.
AJNR. American journal of neuroradiology, 2018Co-Authors: Ulrika Roine, Timo Roine, Antti Hakkarainen, Anna Tokola, Marja H. Balk, Minna Mannerkoski, L. Åberg, Tuula Lönnqvist, Taina AuttiAbstract:BACKGROUND AND PURPOSE: Juvenile Neuronal Ceroid Lipofuscinosis is a progressive neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision, seizures, and loss of cognitive and motor functions leading to premature death. Previous MR imaging studies have reported cerebral and cerebellar atrophy, progressive hippocampal atrophy, thalamic signal intensity alterations, and decreased white matter volume in the corona radiata. However, conventional MR imaging findings are usually normal at younger than 10 years of age. The purpose of our study was to investigate whether diffusion MR imaging could reveal changes in white matter microstructure already present at a younger age. MATERIALS AND METHODS: We investigated global and local white matter abnormalities in 14 children with juvenile Neuronal Ceroid Lipofuscinosis (mean age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean age, 11.2 ± 2.3 years; 7 boys). Twelve patients underwent follow-up MR imaging after 2 years (mean age, 11.4 ± 3.2 years; 8 boys). We performed a global analysis using 2 approaches: white matter tract skeleton and constrained spherical deconvolution–based whole-brain tractography. Then, we investigated local microstructural abnormalities using Tract-Based Spatial Statistics. RESULTS: We found globally decreased anisotropy ( P = .000001) and increased diffusivity ( P = .001) in patients with juvenile Neuronal Ceroid Lipofuscinosis. In addition, we found widespread increased diffusivity and decreased anisotropy in, for example, the corona radiata ( P P CONCLUSIONS: The patients with juvenile Neuronal Ceroid Lipofuscinosis exhibited global and local abnormalities in white matter microstructure. Future studies could apply more specific microstructural models and study whether these abnormalities are already present at a younger age.
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Hippocampal volumes in juvenile Neuronal Ceroid Lipofuscinosis: a longitudinal magnetic resonance imaging study.
Pediatric neurology, 2013Co-Authors: Anna Tokola, L. Åberg, Eero Salli, Taina AuttiAbstract:Abstract Background Juvenile Neuronal Ceroid Lipofuscinosis is an inherited, autosomal recessive, progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage diseases, which manifest with loss of vision, seizures, and loss of cognitive and motor functions, and lead to premature death. Imaging studies have shown cerebral and cerebellar atrophy, yet no previous studies evaluating particularly hippocampal atrophy have been published. This study evaluates the hippocampal volumes in adolescent juvenile Neuronal Ceroid Lipofuscinosis patients in a controlled 5-year follow-up magnetic resonance imaging study. Methods Hippocampal volumes of eight patients (three female, five male) and 10 healthy age- and sex-matched control subjects were measured from two repeated magnetic resonance imaging examinations. Three male patients did not have controls and were excluded from the statistics. In the patient group, the first examination was performed at the mean age of 12.2 years and the second examination at the mean age of 17.3 years. In the control group, the mean ages at the time of examinations were 12.5 years and 19.3 years. Results Progressive hippocampal atrophy was found in the patient group. The mean total hippocampal volume decreased by 0.85 cm³ during the 5-year follow-up in the patient group, which corresponds to a 3.3% annual rate of volume loss. The whole brain volume decreased by 2.9% per year. The observed annual rate of hippocampal atrophy also exceeded the previously reported 2.4% annual loss of total gray matter volume in juvenile Neuronal Ceroid Lipofuscinosis patients. Conclusions These data suggest that progressive hippocampal atrophy is one of the characteristic features of brain atrophy in juvenile Neuronal Ceroid Lipofuscinosis in adolescence.
Anil B Mukherjee - One of the best experts on this subject based on the ideXlab platform.
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mri brain volume measurements in infantile Neuronal Ceroid Lipofuscinosis
American Journal of Neuroradiology, 2017Co-Authors: Eva H Baker, Sondra W. Levin, Zhongjian Zhang, Anil B MukherjeeAbstract:BACKGROUND AND PURPOSE: Infantile Neuronal Ceroid Lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of Ceroid) by lysosomal hydrolases. Consequent lysosomal Ceroid accumulation leads to Neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients9 brain volumes with MR imaging. MATERIALS AND METHODS: Ten patients with infantile Neuronal Ceroid Lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients9 brain volumes were compared with those of a healthy population. RESULTS: Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. CONCLUSIONS: Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile Neuronal Ceroid Lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions.
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Subdural Fluid Collections in Patients With Infantile Neuronal Ceroid Lipofuscinosis
Archives of neurology, 2009Co-Authors: Sondra W. Levin, Zenaide M. N. Quezado, Eva H Baker, Zhongjian Zhang, Andrea L Gropman, Ning Miao, Alice Jollands, Matteo Di Capua, Rafael C. Caruso, Anil B MukherjeeAbstract:Objective To describe subdural fluid collections on magnetic resonance imaging as part of the natural history of infantile Neuronal Ceroid Lipofuscinosis. Design Case series. Setting Program on Developmental Endocrinology and Genetics, The Clinical Center, National Institutes of Health, Bethesda, Maryland. Patients Patients with infantile Neuronal Ceroid Lipofuscinosis with subdural fluid collections. Main Outcome Measure Neurodegeneration on magnetic resonance imaging. Results During an ongoing bench-to-bedside clinical investigation, magnetic resonance imaging examinations led to the incidental discovery of subdural fluid collections in 4 of 9 patients with infantile Neuronal Ceroid Lipofuscinosis. No particular event (such as trauma) or change in symptoms was linked to this finding, which was already in the chronic phase when discovered. Of the 4 patients, 1 was followed up for 7 years, 2 for 4 years, and 1 for 2.5 years. Over time, these collections remained stable or decreased in size. Conclusion Recognition that subdural fluid collections are part of the infantile Neuronal Ceroid Lipofuscinosis disease process may obviate the necessity of additional workup as well as therapeutic interventions in these chronically sick children.
Sondra W. Levin - One of the best experts on this subject based on the ideXlab platform.
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mri brain volume measurements in infantile Neuronal Ceroid Lipofuscinosis
American Journal of Neuroradiology, 2017Co-Authors: Eva H Baker, Sondra W. Levin, Zhongjian Zhang, Anil B MukherjeeAbstract:BACKGROUND AND PURPOSE: Infantile Neuronal Ceroid Lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of Ceroid) by lysosomal hydrolases. Consequent lysosomal Ceroid accumulation leads to Neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients9 brain volumes with MR imaging. MATERIALS AND METHODS: Ten patients with infantile Neuronal Ceroid Lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients9 brain volumes were compared with those of a healthy population. RESULTS: Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. CONCLUSIONS: Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile Neuronal Ceroid Lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions.
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oral cysteamine bitartrate and n acetylcysteine for patients with infantile Neuronal Ceroid Lipofuscinosis a pilot study
Lancet Neurology, 2014Co-Authors: Zenaide M. N. Quezado, Eva H Baker, Sondra W. Levin, Wadih M Zein, Zhongjian Zhang, Kurt J. Griffin, Andrea L Gropman, Ning MiaoAbstract:Summary Background Infantile Neuronal Ceroid Lipofuscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gene ( CLN1 or PPT1 ) encoding palmitoyl-protein thioesterase-1 (PPT1). We have previously reported that phosphocysteamine and N-acetylcysteine mediate Ceroid depletion in cultured cells from patients with this disease. We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with Neuronal Ceroid Lipofuscinosis. Methods Children between 6 months and 3 years of age with infantile Neuronal Ceroid Lipofuscinosis with any two of the seven most lethal PPT1 mutations were eligible for inclusion in this pilot study. All patients were recruited from physician referrals. Patients received oral cysteamine bitartrate (60 mg/kg per day) and N-acetylcysteine (60 mg/kg per day) and were assessed every 6–12 months until they had an isoelectric electroencephalogram (EEG, attesting to a vegetative state) or were too ill to travel. Patients were also assessed by electroretinography, brain MRI and magnetic resonance spectroscopy (MRS), and electron microscopic analyses of leukocytes for granular osmiophilic deposits (GRODs). Children also underwent physical and neurodevelopmental assessments on the Denver scale. Outcomes were compared with the reported natural history of infantile Neuronal Ceroid Lipofuscinosis and that of affected older siblings. This trial is registered with ClinicalTrials.gov, number NCT00028262. Findings Between March 14, 2001, and June 30, 2012, we recruited ten children with infantile Neuronal Ceroid Lipofuscinosis; one child was lost to follow-up after the first visit and nine patients (five girls and four boys) were followed up for 8 to 75 months. MRI showed abnormalities similar to those in previous reports; brain volume and N-acetyl aspartic acid (NAA) decreased steadily, but no published quantitative MRI or MRS studies were available for comparison. None of the children acquired new developmental skills, and their retinal function decreased progressively. Average time to isoelectric EEG (52 months, SD 13) was longer than reported previously (36 months). At the first follow-up visit, peripheral leukocytes in all nine patients showed virtually complete depletion of GRODs. Parents and physicians reported less irritability, improved alertness, or both in seven patients. No treatment-related adverse events occurred apart from mild gastrointestinal discomfort in two patients, which disappeared when liquid cysteamine bitartrate was replaced with capsules. Interpretation Our findings suggest that combination therapy with cysteamine bitartrate and N-acetylcysteine is associated with delay of isoelectric EEG, depletion of GRODs, and subjective benefits as reported by parents and physicians. Our systematic and quantitative report of the natural history of patients with infantile Neuronal Ceroid Lipofuscinosis provides a guide for future assessment of experimental therapies. Funding National Institutes of Health.
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Subdural Fluid Collections in Patients With Infantile Neuronal Ceroid Lipofuscinosis
Archives of neurology, 2009Co-Authors: Sondra W. Levin, Zenaide M. N. Quezado, Eva H Baker, Zhongjian Zhang, Andrea L Gropman, Ning Miao, Alice Jollands, Matteo Di Capua, Rafael C. Caruso, Anil B MukherjeeAbstract:Objective To describe subdural fluid collections on magnetic resonance imaging as part of the natural history of infantile Neuronal Ceroid Lipofuscinosis. Design Case series. Setting Program on Developmental Endocrinology and Genetics, The Clinical Center, National Institutes of Health, Bethesda, Maryland. Patients Patients with infantile Neuronal Ceroid Lipofuscinosis with subdural fluid collections. Main Outcome Measure Neurodegeneration on magnetic resonance imaging. Results During an ongoing bench-to-bedside clinical investigation, magnetic resonance imaging examinations led to the incidental discovery of subdural fluid collections in 4 of 9 patients with infantile Neuronal Ceroid Lipofuscinosis. No particular event (such as trauma) or change in symptoms was linked to this finding, which was already in the chronic phase when discovered. Of the 4 patients, 1 was followed up for 7 years, 2 for 4 years, and 1 for 2.5 years. Over time, these collections remained stable or decreased in size. Conclusion Recognition that subdural fluid collections are part of the infantile Neuronal Ceroid Lipofuscinosis disease process may obviate the necessity of additional workup as well as therapeutic interventions in these chronically sick children.
Eva H Baker - One of the best experts on this subject based on the ideXlab platform.
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mri brain volume measurements in infantile Neuronal Ceroid Lipofuscinosis
American Journal of Neuroradiology, 2017Co-Authors: Eva H Baker, Sondra W. Levin, Zhongjian Zhang, Anil B MukherjeeAbstract:BACKGROUND AND PURPOSE: Infantile Neuronal Ceroid Lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of Ceroid) by lysosomal hydrolases. Consequent lysosomal Ceroid accumulation leads to Neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients9 brain volumes with MR imaging. MATERIALS AND METHODS: Ten patients with infantile Neuronal Ceroid Lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients9 brain volumes were compared with those of a healthy population. RESULTS: Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. CONCLUSIONS: Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile Neuronal Ceroid Lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions.
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oral cysteamine bitartrate and n acetylcysteine for patients with infantile Neuronal Ceroid Lipofuscinosis a pilot study
Lancet Neurology, 2014Co-Authors: Zenaide M. N. Quezado, Eva H Baker, Sondra W. Levin, Wadih M Zein, Zhongjian Zhang, Kurt J. Griffin, Andrea L Gropman, Ning MiaoAbstract:Summary Background Infantile Neuronal Ceroid Lipofuscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gene ( CLN1 or PPT1 ) encoding palmitoyl-protein thioesterase-1 (PPT1). We have previously reported that phosphocysteamine and N-acetylcysteine mediate Ceroid depletion in cultured cells from patients with this disease. We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with Neuronal Ceroid Lipofuscinosis. Methods Children between 6 months and 3 years of age with infantile Neuronal Ceroid Lipofuscinosis with any two of the seven most lethal PPT1 mutations were eligible for inclusion in this pilot study. All patients were recruited from physician referrals. Patients received oral cysteamine bitartrate (60 mg/kg per day) and N-acetylcysteine (60 mg/kg per day) and were assessed every 6–12 months until they had an isoelectric electroencephalogram (EEG, attesting to a vegetative state) or were too ill to travel. Patients were also assessed by electroretinography, brain MRI and magnetic resonance spectroscopy (MRS), and electron microscopic analyses of leukocytes for granular osmiophilic deposits (GRODs). Children also underwent physical and neurodevelopmental assessments on the Denver scale. Outcomes were compared with the reported natural history of infantile Neuronal Ceroid Lipofuscinosis and that of affected older siblings. This trial is registered with ClinicalTrials.gov, number NCT00028262. Findings Between March 14, 2001, and June 30, 2012, we recruited ten children with infantile Neuronal Ceroid Lipofuscinosis; one child was lost to follow-up after the first visit and nine patients (five girls and four boys) were followed up for 8 to 75 months. MRI showed abnormalities similar to those in previous reports; brain volume and N-acetyl aspartic acid (NAA) decreased steadily, but no published quantitative MRI or MRS studies were available for comparison. None of the children acquired new developmental skills, and their retinal function decreased progressively. Average time to isoelectric EEG (52 months, SD 13) was longer than reported previously (36 months). At the first follow-up visit, peripheral leukocytes in all nine patients showed virtually complete depletion of GRODs. Parents and physicians reported less irritability, improved alertness, or both in seven patients. No treatment-related adverse events occurred apart from mild gastrointestinal discomfort in two patients, which disappeared when liquid cysteamine bitartrate was replaced with capsules. Interpretation Our findings suggest that combination therapy with cysteamine bitartrate and N-acetylcysteine is associated with delay of isoelectric EEG, depletion of GRODs, and subjective benefits as reported by parents and physicians. Our systematic and quantitative report of the natural history of patients with infantile Neuronal Ceroid Lipofuscinosis provides a guide for future assessment of experimental therapies. Funding National Institutes of Health.
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Subdural Fluid Collections in Patients With Infantile Neuronal Ceroid Lipofuscinosis
Archives of neurology, 2009Co-Authors: Sondra W. Levin, Zenaide M. N. Quezado, Eva H Baker, Zhongjian Zhang, Andrea L Gropman, Ning Miao, Alice Jollands, Matteo Di Capua, Rafael C. Caruso, Anil B MukherjeeAbstract:Objective To describe subdural fluid collections on magnetic resonance imaging as part of the natural history of infantile Neuronal Ceroid Lipofuscinosis. Design Case series. Setting Program on Developmental Endocrinology and Genetics, The Clinical Center, National Institutes of Health, Bethesda, Maryland. Patients Patients with infantile Neuronal Ceroid Lipofuscinosis with subdural fluid collections. Main Outcome Measure Neurodegeneration on magnetic resonance imaging. Results During an ongoing bench-to-bedside clinical investigation, magnetic resonance imaging examinations led to the incidental discovery of subdural fluid collections in 4 of 9 patients with infantile Neuronal Ceroid Lipofuscinosis. No particular event (such as trauma) or change in symptoms was linked to this finding, which was already in the chronic phase when discovered. Of the 4 patients, 1 was followed up for 7 years, 2 for 4 years, and 1 for 2.5 years. Over time, these collections remained stable or decreased in size. Conclusion Recognition that subdural fluid collections are part of the infantile Neuronal Ceroid Lipofuscinosis disease process may obviate the necessity of additional workup as well as therapeutic interventions in these chronically sick children.