Category: Cognitive

This category contains information about cognitive accessibility. Cognitive is the mental process of thought, perception, reasoning, intuition, and memory. Sufferers may experience confusional states, acute memory disorders, delirium, encephalopathy, dementia, organic brain syndrome, psychosis, or toxic delirium.

Different Types of Leukoencephalopathy

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  • Arteriolosclerotic Leucoencephalopathy in the Elderly (ALE) from the National Library of Medicine (NIH). ALE is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts.

    ALE is common in old age and is probably the cause of leuko-araiosis in most CT scans in the elderly. ALE may be asymptomatic. The severity of white matter changes may not be related to the severity of neurological deficit. Multiple lacunar infarcts or associated degenerative diseases (i.e., Alzheimer's disease) may be the main cause of dementia in patients with ALE.

  • "Leukoencephalopathy in Patients With Ischemic Stroke" by J. Bogousslavsky, M.D., F. Regli, M.D., and A. Uske, M.D. Stroke 1987 Sep-Oct;18(5):896-899. DOI: 10.1161/01.str.18.5.896. PMID: 3629648.
    Studies suggest that hypertension may be more strongly associated with leukoencephalopathy than with deep infarcts. In acute stroke patients, leukoencephalopathy on CT should not be considered a fortuitous finding. Published in the journal of the American Heart Association / American Stroke Association (AHA/ASA).
  • Leukoencephalopathy with Vanishing White Matter from the National Library of Medicine's MedLinePlus. Leukoencephalopathy with vanishing white matter is a genetic progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.
  • "Progressive multifocal leucoencephalopathy in an immunocompetent patient with favourable outcome. A case report." by Halvor Naess, Solveig Glad, Anette Storstein, Christine H Rinaldo, Sverre J Mørk, Kjell-Morten Myhr & Hans Hirsch . BMC Neurology, 18May2010.

Angelman Syndrome

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Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene (ubiquitin protein ligase E3A).

National Organization for Rare Disorders (NORD) with assistance of Charles Williams, MD,  Updated Emeritus Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; member of the Angelman Syndrome Foundation Scientific Advisory Committee.

At this time, therapies for Angelman syndrome are symptomatic and supportive. Several clinical trials on Angelman syndrome are ongoing (see below) but there is no genetic therapy or curative medication available. Advances in neuroscience and in gene therapy techniques however hold great potential for providing meaningful treatment and/or cure of the syndrome.

The general physical health of those with Angelman syndrome is good and usual pediatric care, including customary childhood immunizations, can be provided.

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Angelman Syndrome

  • AS
  • happy puppet syndrome (obsolete)