Neuronal ceroid lipofuscinosis

Like many genetic disorders, neuronal ceroid lipofuscinoses are not necessarily "common" in the population. Many people have never heard of this group of disorders. However, the neuronal ceroid lipofuscinoses are the most common hereditary progressive neurodegenerative diseases. As a group of disorders, neuronal ceroid lipofuscinoses affect approximately 1.3-7 in 100,000 people. This incidence varies depending on the country. The most common types of neuronal ceroid lipofuscinoses are CLN3 disease (the classic juvenile type) and CLN2 disease (the classic late infantile type).

Neuronal ceroid lipofuscinoses have had many names. The acronyms NCL or CLN (ceroid lipofuscinoses, neuronal) can be used as abbreviations for this group of disorders. The name Batten disease was originally specific to the juvenile form of neuronal ceroid lipofuscinosis, but it has recently been used for the group of conditions as a whole. There are many types of these disorders, and each type might have several different names. Six different clinical categories might be used to talk about neuronal ceroid lipofuscinoses, as listed below. People in each of these categories may also be said to have "classical" or "variant" forms of the condition.

1. Congenital
2. Infantile (Type 1)
3. Late Infantile (Type 2)
4. Juvenile (Type 3)
5. Adult
6. Northern Epilepsy

Now that more is known about the genetic cause of neuronal ceroid lipofuscinoses, a new system of naming is used to speak about which gene is changed in the affected person. For example, what was called "juvenile neuronal ceroid lipofuscinosis" may now be called "CLN3-related neuronal ceroid lipofuscinosis." The Batten Disease Support and Research Foundation provides a helpful summary of the naming system. Before much was known about which genes were involved with these disorders, many other names were also given to the different types of neuronal ceroid lipofuscinoses. Some examples are listed here:

• Haltia-Santavuori
• Janský-Bielschowsky
• Spielmeyer-Sjögren
• Kufs type A
• Kufs type B
• Finnish variant late infantile
• Lake-Cavanagh or Indian variant late infantile
• Turkish variant late infantile
• Northern epilepsy
• Parry

There are several different types of neuronal ceroid lipofuscinoses. Neuronal ceroid lipofuscinoses were originally categorized and given different names based on which symptoms the individual started showing and what age the symptoms usually begin. Now that more is known about the genetic causes, a new naming system has been proposed. We can still use six clinical categories to discuss the different types of the condition. These include:

1. Congenital
2. Infantile (Type 1)
3. Late Infantile (Type 2)
4. Juvenile (Type 3)
5. Adult
6. Northern Epilepsy