title: Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy.
abstract: Adult-onset Krabbe disease is clinically rare and usually affects the pyramidal tracts in the central nervous system. Patients develop a spastic gait, and peripheral neuropathy sometimes occurs simultaneously.
  
  
  
  A 55-year-old woman with consanguineous parents developed slowly progressive, asymmetric muscle weakness and atrophy in her forearms, while her ability to walk remained unaffected without pyramidal tract signs after onset at age 51 years.
  
  
  
  Nerve conduction studies demonstrated an asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with uniformly thin myelin sheaths, suggesting hypomyelination. Brain MRI demonstrated minor white-matter injury along the optic radiations, which was associated with asymptomatic, mild, prolonged latency on visual evoked potentials. Laboratory analysis documented low enzyme activity of galactocerebrosidase (GALC) and a known mutation of the GALC gene.
  
  
  
  Isolated peripheral neuropathy occurs very rarely in adult-onset Krabbe disease. Muscle Nerve 54: 152-157, 2016.
authors: Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, 2-17-77 East-Naniwa, Amagasaki City, Hyogo, 660-8550, Japan.
authors: Hiroshi
authors: H
authors: Adachi
authors: Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, 2-17-77 East-Naniwa, Amagasaki City, Hyogo, 660-8550, Japan.
authors: Kanako
authors: K
authors: Ishihara
authors: Department of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors: Hisatsugu
authors: H
authors: Tachibana
authors: Department of Neurology, National Hospital Organization Minami Kyoto Hospital, Kyoto, Japan.
authors: Nobuyuki
authors: N
authors: Oka
authors: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors: Yujiro
authors: Y
authors: Higuchi
authors: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors: Hiroshi
authors: H
authors: Takashima
authors: Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, 2-17-77 East-Naniwa, Amagasaki City, Hyogo, 660-8550, Japan.
authors: Yukihiro
authors: Y
authors: Yoneda
authors: Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, 2-17-77 East-Naniwa, Amagasaki City, Hyogo, 660-8550, Japan.
authors: Yasufumi
authors: Y
authors: Kageyama
mesh_terms: D000906:Antibodies / Q000097:blood; D003241:Consanguinity; D005121:Extremities / Q000503:physiopathology; D005260:Female; D007839:Functional Laterality; D020143:Gangliosidoses, GM2 / Q000276:immunology; D016537:Gangliosidosis, GM1 / Q000276:immunology; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications*; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D013497:Sural Nerve / Q000473:pathology
chemical_list: D000906:Antibodies
keywords: Krabbe disease; adult; galactocerebrosidase; globoid-cell leukodystrophy; neuropathy