Hereditary diffuse leukoencephalopathy with axonal spheroids More than just a rare disease

Neurology

Volumn 82, Issue 2, 2014, Pages 102-103

  Wider, Christian ^a   Wszolek, Zbigniew K ^b  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN TYROSINE KINASE; COLONY STIMULATING FACTOR RECEPTOR;

CENTRAL NERVOUS SYSTEM DISEASE; COLONY STIMULATING FACTOR 1 RECEPTOR GENE; COMPUTER ASSISTED TOMOGRAPHY; EDITORIAL; FRAMESHIFT MUTATION; GENE; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS; HUMAN; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RARE DISEASE; FEMALE; GENETICS; GLIOSIS; HAPLOINSUFFICIENCY; LEUKOENCEPHALOPATHY; MALE; NOTE; PATHOLOGY;

FEMALE; GLIOSIS; HAPLOINSUFFICIENCY; HUMANS; LEUKOENCEPHALOPATHIES; MALE; RECEPTORS, COLONY-STIMULATING FACTOR;

EID: 84895745850     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000026     Document Type: Editorial

References (9)

1. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 1984;314:1-65.
2. Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wszolek ZK. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 2009;72:1953-1959.
3. Sundal C, Fujioka S, Van Gerpen JA, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013;19:869-877.
4. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2012;44:200-205.
5. Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012;79:566-574.
6. Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008;71:925-929.
7. Konno T, Tada M, Tada M, et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014;82:139-148.
8. Nicholson AM, Baker MC, Finch NA, et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013;80:1033-1040.
9. Fujioka S, Broderick D, Sundal C, Baker M, Rademakers R, Wszolek ZK. An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications. J Neurol 2013;260:2665-2668.