Neurological deterioration in late infantile neuronal ceroid lipofuscinosis
| العنوان: | Neurological deterioration in late infantile neuronal ceroid lipofuscinosis |
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| المؤلفون: | Minal V. Kekatpure, Stefan Worgall, Jonathan P. Dyke, Dikoma C. Shungu, Ronald G. Crystal, Michael G. Kaplitt, Charleen Hollmann, Barry E. Kosofsky, Mark M. Souweidane, Xiangling Mao, Dolan Sondhi, Douglas Ballon, Linda Heier, Neil R. Hackett |
| المصدر: | Neurology. 69:521-535 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Mutation, Missense, Disease, Cerliponase alfa, Aminopeptidases, Severity of Illness Index, Retina, White matter, Neuronal Ceroid-Lipofuscinoses, Rating scale, Endopeptidases, Severity of illness, medicine, Humans, Point Mutation, Age of Onset, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Nuclear Magnetic Resonance, Biomolecular, Cerebral Cortex, Neurologic Examination, Aspartic Acid, Tripeptidyl-Peptidase 1, medicine.diagnostic_test, Siblings, Age Factors, Magnetic resonance imaging, Organ Size, Magnetic Resonance Imaging, Ophthalmoscopy, Neuronal Ceroid Lipofuscinosis Type 2, medicine.anatomical_structure, Child, Preschool, Disease Progression, Female, Neurology (clinical), Serine Proteases, Age of onset, Psychology |
| الوصف: | Background: Late infantile neuronal ceroid lipofuscinosis (LINCL) is associated with progressive degeneration of the brain and retina starting in early childhood. Methods: Thirty-two individual neurologic, ophthalmologic, and CNS imaging (MRI and MRS) assessments of 18 children with LINCL were analyzed. Disease severity was followed by two rating scales, one previously established but modified to solely assess the brain and exclude the retinal disease (modified Hamburg LINCL scale), and a newly developed scale, with expanded evaluation of the CNS impairment (Weill Cornell LINCL scale). Results: For the 18 children, the Weill Cornell scale yielded a closer correlation with both age and time since initial clinical manifestation of the disease than did the modified Hamburg scale. There were no significant differences as a function of age or time since initial manifestation of the disease in the rating scales among the most frequent CLN2 mutations (G3556C, 56% of all alleles or C3670T, 22% of all alleles). Measurements of cortical MRS N-acetyl-aspartate content, MRI ventricular, gray matter and white matter volume, and cortical apparent diffusion coefficient correlated to a variable degree with the age of the children and the time since initial clinical manifestation of the disease. All imaging measurements correlated better with the Weill Cornell CNS scale compared to the modified Hamburg LINCL scale. Conclusion: The data suggest that the Weill Cornell late infantile neuronal ceroid lipofuscinosis (LINCL) scale, together with several of the MRI measurements, may be useful in the assessment of severity and progression of LINCL and for the evaluation of novel therapeutic strategies. |
| تدمد: | 1526-632X 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f17a1e8960ea982826ee5fa0b53273ebTest https://doi.org/10.1212/01.wnl.0000267885.47092.40Test |
| رقم الانضمام: | edsair.doi.dedup.....f17a1e8960ea982826ee5fa0b53273eb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
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