{"id":58962,"date":"2022-01-13T12:14:22","date_gmt":"2022-01-13T11:14:22","guid":{"rendered":"https:\/\/hodeilargi.org\/batten-disease\/"},"modified":"2022-03-20T18:26:58","modified_gmt":"2022-03-20T17:26:58","slug":"batten-disease","status":"publish","type":"page","link":"https:\/\/hodeilargi.org\/en\/batten-disease\/","title":{"rendered":"Batten disease"},"content":{"rendered":"

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What is Batten's disease (CLN 6)?<\/h3><\/div>
Also known as Lipofuscinosis Ceroide Neuronal CLN, Batten’s disease is an hereditary disorder which affects the nervous system. It’s characterised by the accumulation of toxic of substances called ‘lipopigments’ (fats and proteins) in cells, mainly those of the brain and retina. Eventually, this causes the death of brain neurones, the retina and central nervous system, with a negative impact on the functioning of the visual and nervous sistems, so it is a neurodegenerative disease.<\/p>\n

People with Batten disease are born healthy and develop normally during their first years, but over time their development slows, and they gradually lose their intellectual, visual and mobility capacities.<\/p>\n

The main types of Battens disease are currently classified according to the genetic defects that affect cells at different levels. There are 14 subsets in total, from CLN1 discovered in 1995 to CLN14 (2021). These different NCL types have symptoms and characteristics in common such as epilepsy, progressive psychomotor impairment and visual deficit. They vary in age of onset and severity, from the newborn stage to adulthood, and this variety is due to different genetic factors, such as heredity and the type of mutation they carry (what is called genotype-phenotype correlation).<\/p>\n

Inheritance is usually autosomal recessive, that is, each parent is a carrier and in each pregnancy of that couple the risk of transmission of the disease is 25%. The gene that is altered is different in each type of NCL and within each gene there may be
\nvery different types of mutations. Thus, in two families with sons or daughters with the same type of NCL (for example, CLN6), they may have different mutations in that same gene (there are more than 70 different ones for CLN6, for example).<\/p>\n

From the point of view of age of symptom onset, NCL can be classified into:
\n– Late infancy NCL appears between the ages of 3-8. In general, these children live to between 8-12 years. This is the group to which Hodei & Ilargi belong: CLN6.
\n– Juvenile NCL appears between the ages of 5-8. Many of the children survive to adolescence or even to the age of 20.
\n– Adult NCL appears before the age of 40. These patients can expect to have a normal life.<\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/3″][vc_single_image image=”57355″ img_size=”full” css=”.vc_custom_1637512967065{margin-top: 50px !important;}”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”vc_default” css=”.vc_custom_1638531796101{margin-top: 30px !important;margin-bottom: 50px !important;}”][vc_column]

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Symptoms<\/h4><\/div>
Symptoms: The most common symptoms of CLN6 include:<\/p>\n