User:Hsrinimukesh3/Hereditary diffuse leukoencephalopathy with spheroids
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| Hsrinimukesh3/Hereditary diffuse leukoencephalopathy with spheroids |
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Hereditary diffuse leukoencephalopathy with spheroids is a rare autosomal dominant disorder characterized by cerebral white matter degeneration with axonal spheroids leading to progressive cognitive and motor dysfunction.
History[edit]
This disease was first described in 1984 by Axelsson et al in Sweden.[1]
Pathology[edit]
There is enlargement of the lateral ventricles and marked attenuation of cerebral white matter.[2] The loss of white matter is caused by myelin loss. These changes are associated with diffuse gliosis, moderate loss of axons and many axonal spheroids. Spheroids have thin, discontinuous or lack myelin sheaths entirely. Macrophages with non-metachromatic lipid granules are common.
The pathology of this disease resembles that of Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy).[3] Nasu-Hakola disease appears to be caused by mutations in the TYRO protein tyrosine kinase-binding protein and the Triggering receptor expressed on myeloid cells 2 protein.
Genetics[edit]
The cause of this disease appears to be due to mutations in the colony stimulating factor 1 receptor.[4] The mutations are concentrated in tyrosine kinase domain of the protein.
Clinically[edit]
The presentation may be variable with forgetfulness, global intellectual deterioration with amnesia, spatiotemporal disorientation and impairment of judgement. The age of onset may range from 8 to 60 years. Mean age at onset is 35 years.
References[edit]
- ^ Axelsson R et al (1984) Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatrica Scandinavica 69 (Suppl 314) 65
- ^ Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK (2006) Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111(4):300-311
- ^ Hancock N, Poon M, Taylor B, McLea C (2003) Hereditary diffuse leucoencephalopathy with spheroids. J Neurol Neurosurg Psychiatry 74:1345–1347
- ^ Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, Dejesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, Mackenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK (2011) Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet doi:10.1038/ng.1027.
Category:Genetic disorders
Category:Neurological disorders
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