Alexander disease is a progressive neurological disease of cerebral white matter.

Alexander disease is a progressive neurological disease of cerebral white matter. Myelin is the fatty acid cover of a neuron that promotes the regular channeling of nerve impulses. Alexander disease can dismantle myelin and hence neurotransmission among nerves can get disrupted This is a very rare disorder of the nervous system caused by a heterozygous GFAP (Glial Fibrillary Acidic Protein) variant. This disease is most common among infants and children.

This disease mainly occurs because of sporadic mutation within a GFAP gene. GFAP gene instructs to produce glial fibrillary acidic protein.  The mutation in the GFAP gene can change the protein structure. Consequently, the abnormal GFAP assembles in astroglial cells. It leads to the emergence of Rosenthal fibers (also understood as abnormal protein deposits) that damage cell function. These damaged astroglial cells result in diminishing the myelin and show symptoms of Alexander's disease.

This disease was first narrated in 1949 as a 16-month-old boy had died after exhibiting megalencephaly, hydrocephalus, and psychomotor delays. Since then around 500 cases have been found which make this disease atypical. 

This disease is also known by the name of leukodystrophy with Rosenthal fibers, dysmyelinogenic leukodystrophy among others. Alexander disease has some specific forms including neonatal, infantile, juvenile, and adults. Among these, the infantile form is the most common one. Abnormal head size, seizures, loss of motor control, stiffness of body parts are the symptoms of this form. Only genetic testing can verify Alexander disease diagnosis. 

As of now, there is no treatment for Alexander disease. However, proactive decisions and proper medical care can lessen the suffering of affected individuals. Scientists are trying to fund research and find a cure for this deadly and odd disease.

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Luthfa Akter Bushra

Intern, BRAC University

Luthfa Akter Bushra is currently an undergraduate student of Biotechnology at the Department of Mathematics and Natural Sciences, School of Data and Science, BRAC University. Fascinated by neuroscience, she is also serving as the Assistant Executive of BRAC University Natural Sciences Club (BUNSC) and a research assistant at COB Department of Research and Development.

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    raveena aher

    08 Jun 2022

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    raveena aher

    13 Jul 2022

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    liana

    13 Oct 2022

    thanks for info

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