Alexander disease

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Alexander disease
macroencephaly and periventricular leukomalacia (note brownish discoloration around the cerebral ventricles)
SpecialtyEndocrinology, neurology Edit this on Wikidata

Alexander disease is a very rare

psychiatric disorder
.

According to the National Institute of Neurological Disorders and Stroke, the destruction of white matter is accompanied by the formation of Rosenthal fibers—abnormal clumps of protein that accumulate in astrocytes in the brain.

The disease occurs in both males and females, and no ethnic, racial, geographic or cultural/economic differences are seen in its distribution. Alexander disease is a progressive and often fatal disease.[1]

Presentation

Delays in development of some physical, psychological and behavioral skills; progressive enlargement of the head (

seizures, spasticity, and in some cases also hydrocephalus, idiopathic intracranial hypertension, and dementia.[2]

In cases of early-onset or neonatal Alexander disease, symptoms include seizures, fluid buildup in the brain, high protein levels in cerebrospinal fluid, and severe motor and intellectual impairment. In cases of type I Alexander disease, where the condition appears before age 4, symptoms include seizures, enlarged brain and head, stiffness in the limbs, delayed intellectual and physical development, recurrent vomiting, and difficulties with gaining weight. In cases of type II Alexander disease, where the condition appears after the age of 4, symptoms include speech problems, difficulty swallowing, poor coordination, scoliosis, recurrent vomiting, and difficulties with gaining weight.[3]

Cause

Alexander disease is a genetic disorder affecting the

chromosome 17q21. It is inherited in an autosomal dominant manner, such that the child of a parent with the disease has a 50% chance of inheriting the condition, if the parent is heterozygotic. However, most cases arise de novo as the result of sporadic mutations.[2]

Alexander disease belongs to

myelin sheath. The destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers.[2][7][8] Rosenthal fibers appear not to be present in healthy people,[7][9] but occur in specific diseases, like some forms of cancer, Alzheimer's, Parkinson's, Huntington's, and ALS.[7][9][10] The Rosenthal fibers found in Alexander disease do not share the distribution or concentration of other diseases and disorders.[7]

Pathology

Alexander disease causes the gradual loss of bodily functions and the ability to talk. It also causes an overload of long-chain fatty acids in the brain, which destroy the myelin sheath. The cause of Alexander disease is a mutation in the gene encoding GFAP.[2][7][4][5][11][10][excessive citations]

A

CT scan
shows:

Diagnosis

Detecting the signs of Alexander disease is possible with

radiological studies, and negative tests for other leukodystrophies.[9]

Treatment

No cure or standard procedure for treatment is known, although a

bone marrow transplant has been attempted on a child, but it made no improvement.[17][18] Hydrocephalus may be seen in younger patients and can be relieved with surgery or by implanting a shunt to relieve pressure.[19]

Prognosis

The prognosis is generally poor. With early onset, death usually occurs within 10 years from the onset of symptoms. Individuals with the infantile form usually die before the age of seven.[20] Usually, the later the disease occurs, the slower its course.[2][7]

Prevalence

Its occurrence is very rare. The infantile form occurs from birth to two years of age.

pseudobulbar symptoms and spasticity predominate. Symptoms of the adult form may also resemble multiple sclerosis.[2] No more than 500 cases have been reported.[2]

See also

References

  1. ^ "Alexander Disease Information Page". National Institute of Neurological Disorders and Stroke. 2018. Public Domain This article incorporates text from this source, which is in the public domain.
  2. ^
    PMID 20301351
    – via PubMed.
  3. ^ "Alexander Disease". Children's Hospital of Philadelphia. 21 December 2017. Retrieved 23 February 2023.
  4. ^
    S2CID 13541342
    .
  5. ^
    PMID 17498694
    .
  6. ^
    PMID 22496548
    .
  7. ^ a b c d e f g alexander_disease at NINDS
  8. ^ "Cause of brain disease found". January 2, 2001 – via news.bbc.co.uk.
  9. ^ a b c "Alexander Disease - United Leukodystrophy Foundation". Archived from the original on 2010-04-28. Retrieved 2010-06-14.
  10. ^ a b c "Mutation in common protein triggers tangles, chaos inside brain cells". news.wisc.edu. Retrieved 2018-11-16.
  11. ^
    PMID 18388212
    .
  12. PMID 19671368
    .
  13. PMID 11237983
    .
  14. S2CID 12408421
    .
  15. S2CID 206312570
    .
  16. ^ "A Study to Evaluate the Safety and Efficacy of ION373 in Patients With Alexander Disease (AxD)". clinicaltrials.gov. U.S. National Library of Medicine ClinicalTrials.gov. Retrieved 2021-12-08.
  17. PMID 9257894
    .
  18. PMID 20880512
    .
  19. ^ "Alexander Disease - United Leukodystrophy Foundation United Leukodystrophy Foundation". ulf.org. 2 February 2016. Retrieved 2016-11-08.
  20. ^ "Alexander Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih.gov. Archived from the original on 2012-05-14. Retrieved 2016-11-03.
  21. S2CID 5851209
    .

External links

Wikimedia Commons has media related to Alexander disease.
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