Hereditary diffuse leukoencephalopathy with spheroids
Other Names for this Disease
- Adult-onset leukodystrophy with neuroaxonal spheroids
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
- Hereditary diffuse leukoencephalopathy with axonal spheroids
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HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. This damage is thought to contribute to the symptoms see in this condition, including personality changes (including a loss of social inhibitions and depression which are among the earliest symptoms of HDLS), memory loss and loss of executive function (the ability to plan and implement actions and develop problem-solving strategies which impairs skills such as impulse control, self-monitoring, and focusing attention appropriately). Some people with HDLS have mild seizures early in the disease and may experience a severe decline in thinking and reasoning abilities (dementia) as the disease progresses. Over time, motor skills are affected, and people with HDLS may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family. Over time, almost all affected individuals become unable to walk, speak, and care for themselves.
Last updated: 3/27/2013
- Hereditary diffuse leukoencephalopathy with spheroids. Genetics Home Reference (GHR). December 2012; http://ghr.nlm.nih.gov/condition/hereditary-diffuse-leukoencephalopathy-with-spheroids. Accessed 3/27/2013.