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Information on Batten Disease

Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist.

Batten disease and other forms of NCL are relatively rare, occurring in an estimated 2 to 4 of every 100,000 live births in the United States. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective genes.

In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Symptoms of Batten Disease/NCLs are linked to a buildup of substances called lipopigments in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Inside the cells, these pigments form deposits with distinctive shapes that can be seen under an electron microscope.

Batten disease is inherited in an autosomal recessive pattern. The mutation causes the buildup of lipofuscins in the body's tissues. These substances consist of fats and proteins and form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Six genes have now been identified that cause different types of Batten disease in children or adults, more having yet to be identified.

Batten disease is named after the British paediatrician who first described it in 1903. It is one of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs). Although Batten disease is the juvenile form of NCL, most doctors use the same term to describe all forms of NCL. Early symptoms of Batten disease (or NCL) usually appear in childhood when parents or doctors may notice a child begin to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behaviour changes, slow learning, clumsiness or stumbling.

Batten disease is diagnosed based on the symptoms the child is experiencing. Parents or the child’s pediatrician may notice that the child has begun to develop vision problems or seizures. Special electrical studies of the eyes, such visual-evoked response or electroretinogram (ERG), may be done. In addition, diagnostic tests such as electroencephalogram (EEG, to look for seizure activity) and magnetic resonance imaging (MRI, to look for changes in the brain) may be done.

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Light Microscopes? How do they work?

We learned how to use the light microscope during biology class today, but I'm a bit confused on the subject. How does it work?

a light microscope is a microscope that uses ordinary visible light to illuminate the image of the specimen.

the e was flipped backwards because a light makes an object bend by light through the microscope so it's like a reflection of the object youre looking at. That's why the e look the correct way when you looked through the microscope and not when you looked at it regularly, it works the same way as a mirror does.

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