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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 (<jats:italic>n<\/jats:italic>\u2009=\u20097); (2) adolescence onset cases (<jats:italic>n<\/jats:italic>\u2009=\u20096) and adult onset cases (<jats:italic>n<\/jats:italic>\u2009=\u200928). Overall, 96 % of patients in the adult\u2010onset 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\u2010 and childhood\u2010onset groups had similar presentations but were more likely to display optic neuropathy (33 % and 57 %) and cerebellar ataxia (50 % and 57 %). In the adult\u2010onset 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\u2010spinal tracts (94 % of cases), hyper\u2010intensities of optic radiations (89 %) and hyper\u2010intensities or atrophy of the posterior part of the corpus callosum (60 %). No clear genotype\u2010phenotype relationship could be demonstrated.<\/jats:p>","DOI":"10.1007\/s10545-012-9560-4","type":"journal-article","created":{"date-parts":[[2012,11,29]],"date-time":"2012-11-29T15:22:45Z","timestamp":1354202565000},"page":"859-868","source":"Crossref","is-referenced-by-count":100,"title":["Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review"],"prefix":"10.1002","volume":"36","author":[{"given":"Rabab","family":"Debs","sequence":"first","affiliation":[{"name":"Department of Neurology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris and University Pierre&amp;Marie Curie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Laboratoire des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et Laboratoire Gillet\u2010M\u00e9rieux, Groupe Hospitalier Est Hospices Civils de 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