Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement

Journal of the Neurological Sciences

Volumn 358, Issue 1-2, 2015, Pages 515-517

  Körtvelyessy, Peter ^a   Krägeloh Mann, Ingeborg ^b   Mawrin, Christian ^a   Heinze, Hans Jochen ^a,c   Bittner, Daniel ^a,d   Wieland, Ilse ^a   Zenker, Martin ^a   Nestor, Peter ^d  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c LEIBNIZ INSTITUTE FOR NEUROBIOLOGY   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

HDLS; Hereditary leukoencephalopathy with spheroids; Histopathology HDLS; Myelopathy

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR;

CASE REPORT; GENETICS; HUMAN; LEUKOENCEPHALOPATHY; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; SPINAL CORD DISEASE;

HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MUTATION; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; SPINAL CORD DISEASES;

EID: 84945978853     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2015.09.370     Document Type: Letter

References (10)

1. R. Ahmed, R. Guerreiro, J.D. Rohrer, G. Guven, M.N. Rossor, J. Hardy, and N.C. Fox A novel A781V mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids J. Neurol. Sci. 332 2013 141 144
2. R. Axelsson, M. Röyttä, P. Sourander, H.O. Akesson, and O. Andersen Hereditary diffuse leukoencephalopathy with spheroids Acta Psychiatr. Scand. Suppl. 314 1984 1 65
3. R. Guerreiro, E. Kara, I. Le Ber, J. Bras, J.D. Rohrer, R. Taipa, T. Lashley, C. Dupuits, and et al. Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene JAMA Neurol. 70 2013 875 882
4. K. Itoh, K. Shiga, K. Shimizu, M. Muranishi, M. Nakagawa, and S. Fushiki Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: Clinical and neuropathological characteristics Acta Neuropathol. 111 2006 39 45
5. K.N. Karle, S. Biskup, R. Schüle, K.J. Schweitzer, R. Krüger, P. Bauer, B. Bender, T. Nägele, and L. Schöls De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) Neurology 81 2013 2039 2044
6. R. Rademakers, M. Baker, A.M. Nicholson, N.J. Rutherford, N. Finch, A. Soto-Ortolaza, and et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids Nat. Genet. 44 2012 200 205
7. B.Y. Saitoh, R. Yamasaki, S. Hayashi, and et al. A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis Mult. Scler. 19 2013 1367 1370 10.1177/1352458513489854
8. C. Sundal, M. Baker, V. Karrenbauer, and et al. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis Eur. J. Neurol. 22 2015 328 333 10.1111/ene.12572
9. C. Sundal, J. Lash, J. Aasly, and et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity J. Neurol. Sci. 314 2012 130 137 10.1016/j.jns.2011.10.006
10. C. Trebst, S. Jarius, A. Berthele, and et al. Update on the diagnosis and treatment of neuromyelitis optica: Recommendations of the Neuromyelitis Optica Study Group (NEMOS) J. Neurol. 261 2014 1 16 10.1007/s00415-013-7169-7