title: Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
abstract: Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.
authors.affiliation: Unit of Neurology and Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy. alessandro.malandrini@unisi.it
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: C
authors.initials: C
authors.lastname: D'Eramo
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: C
authors.initials: C
authors.lastname: Gaudiano
authors.forename: S
authors.initials: S
authors.lastname: Gambelli
authors.forename: F
authors.initials: F
authors.lastname: Sicurelli
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: P
authors.initials: P
authors.lastname: Formichi
authors.forename: A
authors.initials: A
authors.lastname: Kuqo
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000473:pathology; D005698:Galactosylceramidase / Q000235:genetics; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology
chemical_list: D005698:Galactosylceramidase