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Journal of Inherited Metabolic Disease

, Volume 36, Issue 5, pp 859–868 | Cite as

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

  • Rabab Debs
  • Roseline Froissart
  • Patrick Aubourg
  • Caroline Papeix
  • Claire Douillard
  • Bertrand Degos
  • Bertrand Fontaine
  • Bertrand Audoin
  • Arnaud Lacour
  • Gérard Said
  • Marie T. Vanier
  • Frédéric Sedel
Original Article

Abstract

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.

Keywords

Cerebellar Ataxia Spastic Paraparesis Charcot Marie Tooth Disease Charcot Marie Tooth Infantile Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Conflict of interest

None.

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Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Rabab Debs
    • 1
  • Roseline Froissart
    • 2
  • Patrick Aubourg
    • 3
  • Caroline Papeix
    • 1
  • Claire Douillard
    • 4
  • Bertrand Degos
    • 1
  • Bertrand Fontaine
    • 1
    • 5
  • Bertrand Audoin
    • 6
  • Arnaud Lacour
    • 7
  • Gérard Said
    • 1
  • Marie T. Vanier
    • 2
    • 8
  • Frédéric Sedel
    • 1
    • 9
    • 10
  1. 1.Department of Neurology, Pitié-Salpêtrière HospitalAssistance Publique-Hôpitaux de Paris and University Pierre&Marie CurieParisFrance
  2. 2.Laboratoire des Maladies Héréditaires du Métabolisme et Laboratoire Gillet-Mérieux, Groupe Hospitalier EstHospices Civils de LyonBronFrance
  3. 3.Department of Pediatric Neurology, CHU Kremlin Bicêtre, Assistance Publique–Hôpitaux de Paris, France and INSERM UMR745University Paris-DescartesParisFrance
  4. 4.Service d’endocrinologie et maladies métaboliquesClinique endocrinologique Marc LinquetteCHU de LilleFrance
  5. 5.Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, INSERM, UMR 546ParisFrance
  6. 6.Department of NeurologyCHU de la TimoneMarseilleFrance
  7. 7.Service de Neurologie D et Centre de réference des maladies rares neuromusculairesLilleFrance
  8. 8.INSERM, Unité 820, Faculté de Médecine Lyon EstUniversité Lyon-1LyonFrance
  9. 9.Neurometabolic unit, reference center for lysosomal diseases, GRC13-UPMCParisFrance
  10. 10.Department of NeurologyHôpital de la SalpêtrièreParis cedex 13France

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