Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
| العنوان: | Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review |
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| المؤلفون: | Marie T. Vanier, Roseline Froissart, Claire Douillard, Bertrand Degos, Caroline Papeix, Arnaud Lacour, Gérard Said, Rabab Debs, Patrick Aubourg, Bertrand Audoin, Bertrand Fontaine, Frédéric Sedel |
| المصدر: | Journal of Inherited Metabolic Disease Journal of Inherited Metabolic Disease; Vol 36 |
| بيانات النشر: | Wiley, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Adult, Male, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, Optic neuropathy, Central nervous system disease, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Age of Onset, Cognitive decline, Child, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, business.industry, Leukodystrophy, Middle Aged, medicine.disease, Leukodystrophy, Globoid Cell, 3. Good health, Phenotype, Peripheral neuropathy, Krabbe disease, Female, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery |
| الوصف: | Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 cases previously reported in the literature we describe the clinical, radiological, electrophysiological and genetic features of adult Krabbe disease. Patients diagnosed after the age of 16 years were included in this study. They were further divided into three groups depending on age at symptoms onset: (1) childhood onset cases (n = 7); (2) adolescence onset cases (n = 6) and adult onset cases (n = 28). Overall, 96 % of patients in the adult-onset group presented with signs of pyramidal tracts dysfunction. Spastic paraparesis or tetraparesis became prominent in all cases. A peripheral neuropathy was present in 59 % of cases and was most often demyelinating (80 %). Other clinical signs encompassed dysarthria (31 %), cerebellar ataxia (27 %), pes cavus (27 %), deep sensory signs (23 %), tongue atrophy (15 %), optic neuropathy (12 %), cognitive decline (12 %). Cerebrospinal fluid protein concentration was moderately increased in 54 % of patients. Patients in the adolescent- and childhood-onset groups had similar presentations but were more likely to display optic neuropathy (33 % and 57 %) and cerebellar ataxia (50 % and 57 %). In the adult-onset group, the disease progressed slowly over more than 10 years, but a rapid course was observed in two patients. Abnormalities of brain MRI was similar in the three groups and included high signals of cortico-spinal tracts (94 % of cases), hyper-intensities of optic radiations (89 %) and hyper-intensities or atrophy of the posterior part of the corpus callosum (60 %). No clear genotype-phenotype relationship could be demonstrated. |
| تدمد: | 1573-2665 0141-8955 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c4f293537f0e40d3321762eb48f88cTest https://doi.org/10.1007/s10545-012-9560-4Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....45c4f293537f0e40d3321762eb48f88c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732665 01418955 |
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