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  • 1
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    Online Resource
    Is the brain involved in patients with late‐onset Pompe disease?
    Wiley ; 2022
    In:  Journal of Inherited Metabolic Disease Vol. 45, No. 3 ( 2022-05), p. 493-501
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 45, No. 3 ( 2022-05), p. 493-501
    Abstract: Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late‐onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white‐matter abnormalities (WMA) and impaired cognition on long‐term enzyme treatment are reported in a subset of patients. Brain imaging (T1, T2, T2 fluid‐attenuated inversion recovery, susceptibility‐weighted images, and magnetic resonance angiography–time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities). We included 19 patients with late‐onset Pompe disease (age range 11‐56 years). Two patients showed mild punctate WMA within normal range for age, with a Fazekas score (FS) of 1 to 2. Magnetic resonance angiography revealed a slight vertebrobasilar dolichoectasia in two patients yet did not show any aneurysms or vascular dissections. Most patients had age‐adjusted scores within the normal range for the Wechsler index scores (verbal comprehension, perceptual reasoning, working memory, and processing speed) and combined total intelligence (IQ) score (median 101, interquartile range 91‐111; one patient had a below‐average score for total IQ) as well as for the specific domains verbal fluency, attention, and memory. A subset of patients performed suboptimally on the Rey Complex Figure Test (9/14 patients) or cube‐copying/clock‐drawing test of the MoCA (8/10 patients). We therefore concluded that our study showed no brain abnormalities, other than minor microvascular lesions considered within normal range for age, nor general cognitive impairment in late‐onset Pompe patients. These findings are in sharp contrast with the widespread WMA and cognitive problems found in some classic infantile patients.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v45.3
    DOI: 10.1002/jimd.12469
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2006875-X
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  • 2
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    Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients
    Wiley ; 2020
    In:  Journal of Inherited Metabolic Disease Vol. 43, No. 6 ( 2020-11), p. 1243-1253
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    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 43, No. 6 ( 2020-11), p. 1243-1253
    Abstract: The aim of this study was to compare the long‐term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow) to those treated with 40 mg/kg/week, and to study the additional effect of immunomodulation. Six patients received 20 mg/kg eow and twelve 40 mg/kg/week. Five patients were cross‐reactive immunologic material (CRIM)‐negative, two in the 20 mg, three in the 40 mg group. We compared (ventilator‐free) survival, motor outcome, infusion associated reactions (IARs), and antibody formation. From 2012 on patients 〉 2 months in the 40 mg group also received immunomodulation with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in an enzyme replacement therapy (ERT)‐naïve setting. Survival was 66% in the 20 mg group and 92% in the 40 mg group. Ventilator‐free survival was 50% and 92%. Both CRIM‐negative patients in the 20 mg group died, whereas all three are alive in the 40 mg group. In the 20 mg group, 67% learned to walk compared with 92% in the 40 mg group. At the age of 3 years, 33% and 92% were able to walk. Peak antibody titers ranged from 1:1250 to 1:31 250 in the 20 mg group and from 1:250 to 1:800 000 in the 40 mg group. Five patients of the 40 mg group of whom two CRIM‐negative also received immunomodulation. B‐cell recovery was observed between 5.7 and 7.9 months after the last dose of rituximab. After B‐cell recovery titers of patients with and without immunomodulation were similar (ranges 1:6 250‐1:800 000 and 1:250‐1:781 250). This study shows that classic infantile patients treated with 40 mg/kg/week from the start to end have a better (ventilator‐free) survival and motor outcome. Immunomodulation did not prevent antibody formation in our study.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v43.6
    DOI: 10.1002/jimd.12268
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2006875-X
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  • 3
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    Diffusion tensor imaging of the brain in Pompe disease
    Springer Science and Business Media LLC ; 2023
    In:  Journal of Neurology Vol. 270, No. 3 ( 2023-03), p. 1662-1671
    Details
    In: Journal of Neurology, Springer Science and Business Media LLC, Vol. 270, No. 3 ( 2023-03), p. 1662-1671
    Abstract: Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain involvement in late-onset patients is not fully elucidated. To study the underlying microstructure of white matter, we acquired structural (T1, T2, FLAIR) and diffusion tensor imaging (DTI) of the brain in 12 classic infantile patients (age 5–20 years) and 18 late-onset Pompe patients (age 11–56 years). Structural images were scored according to a rating scale for classic infantile patients. Fractional anisotropy (FA) and mean diffusivity (MD) from classic infantile patients were compared to a reference population, using a Wilcoxon signed-rank, one sample test. Effect sizes (Hedges’ G) were used to compare DTI metrics across different tracts. For late-onset patients, results were compared to (reported) tractography data on normal aging. In classic infantile patients, we found a significant lower FA and higher MD ( p   〈  0.01) compared to the reference population. Large-association fibers were most severely affected. Classic infantile patients with advanced white matter abnormalities on structural MRI showed the largest deviations from the reference population. FA and MD were similar for younger and older late-onset patients in large WM-association fibers. We conclude that, while no deviations from typical neurodevelopment were found in late-onset patients, classic infantile Pompe patients showed quantifiable, substantially altered white matter microstructure, which corresponded with disease stage on structural MRI. DTI holds promise to monitor therapy response in future therapies targeting the brain.
    Type of Medium: Online Resource
    ISSN: 0340-5354 , 1432-1459
    URL: Article
    DOI: 10.1007/s00415-022-11506-z
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1421299-7
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  • 4
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    Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
    Wiley ; 2018
    In:  Journal of Inherited Metabolic Disease Vol. 41, No. 6 ( 2018-12), p. 1247-1258
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    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 41, No. 6 ( 2018-12), p. 1247-1258
    Abstract: The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. The objective of this study was to determine the incidence of craniosynostosis in the different mucopolysaccharidosis (MPS) types and its clinical consequences. Methods In a prospective cohort study spanning 10 years, skull imaging and clinical evaluations were performed in 47 MPS patients (type I, II, VI, and VII). A total of 215 radiographs of the skull were analyzed. The presence and type of craniosynostosis, the sutures involved, progression over time, skull shape, head circumference, fundoscopy, and ventriculoperitoneal shunt (VPS) placement data were evaluated. Results Craniosynostosis of at least one suture was present in 77% of all 47 MPS patients (≤ 6 years of age in 40% of all patients). In 32% of all MPS patients, premature closure of all sutures was seen (≤ 6 years of age in 13% of all patients). All patients with early closure had a more severe MPS phenotype, both in the neuronopathic (MPS I, II) and non‐neuronopathic (MPS VI) patient groups. Because of symptomatic increased intracranial pressure (ICP), a VPS was placed in six patients, with craniosynostosis as a likely or certain causative factor for the increased pressure in four patients. One patient underwent cranial vault expansion because of severe craniosynostosis. Conclusions Craniosynostosis occurs in the majority of MPS patients. Since the clinical consequences can be severe and surgical intervention is possible, skull growth and signs and symptoms of increased ICP should be monitored in both neuronopathic and non‐neuronopathic patients with MPS.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-018-0212-1
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2006875-X
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  • 5
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    Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II ?
    Wiley ; 2021
    In:  Journal of Inherited Metabolic Disease Vol. 44, No. 3 ( 2021-05), p. 751-762
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 44, No. 3 ( 2021-05), p. 751-762
    Abstract: To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in mucopolysaccharidosis (MPS) II patients. Methods Cognitive ability scores (CAS) were obtained by neuropsychological testing. Cerebral MRIs were quantified using a disease‐specific protocol. MRI sumscores were calculated for atrophy, white‐matter abnormalities (WMA) and Virchow‐Robin spaces (VRS). To distinguish between atrophy and hydrocephalus the Evans' index and the callosal angle (CA) were measured. A random effects repeated measurement model was used to correlate CAS with the three MRI sumscores. Results MRI (n = 47) and CAS scores (n = 78) of 19 male patients were analyzed. Ten patients were classified as neuronopathic and nine as non‐neuronopathic. Neuronopathic patients had normal cognitive development until age 3 years. Mental age plateaued between ages 3 and 6, and subsequently declined with loss of skills at a maximum developmental age of 4 years. MRIs of neuronopathic patients showed abnormal atrophy sumscores before CAS dropped below the threshold for intellectual disability ( 〈 70). White‐matter abnormalities (WMA) and brain atrophy progressed. The calculated sumscores were inversely correlated with CAS ( r  = −.90 for atrophy and −.69 for WMA). This was not biased by the influence of hydrocephalus as shown by measurement of the Evans' and callosal angle. Changes over time in the Virchow‐Robin spaces (VRS) on MRI were minimal. Conclusion In our cohort, brain atrophy showed a stronger correlation to a decline in CAS when compared to WMA. Atrophy‐scores were higher in young neuronopathic patients than in non‐neuronopathic patients and atrophy was an important early sign for the development of the neuronopathic phenotype, especially when observed jointly with white‐matter abnormalities.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v44.3
    DOI: 10.1002/jimd.12342
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2006875-X
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