Forms
The older classification of NCL divided the condition into four types (CLN1, CLN2, CLN3, and CLN4) based upon age of onset, while newer classifications divide it by the associated gene.
CLN4 (unlike CLN1, CLN2, and CLN3) has not been mapped to a specific gene.
| Type | Description | OMIM | Gene |
| Type 1 | Infantile NCL (Santavuori-Haltia disease, INCL): begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The infantile form has the most rapid progression and children live into their mid childhood years. The gene responsible for Infantile NCL has been identified in some cases of juvenile/adult onset. It is thought these patients have some partial enzyme production that leads to a protracted, less severe disease course. | 256730 | PPT1 |
| Type 2 | Late Infantile NCL (Jansky-Bielschowsky disease, LINCL) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration, though afflicted children may show mild-severe delays in speech development well before other symptoms appear. This form progresses rapidly and ends in death between ages 8 and 12. | 204500 | TPP1 |
| Type 3 | Juvenile NCL (Batten disease, JNCL) begins between the ages of 5 and 8 years of age. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s. | 204200 | CLN3 |
| Type 4 | Adult NCL (Kufs disease, Parry's disase, ANCL) generally begins before the age of 40, causes milder symptoms that progress slowly and does not cause blindness. Although age of death is variable among affected individuals, this form does shorten life expectancy. | 204300 (AR), 162350 (AD) | CLN6 DNAJC5 |
| Type 5 | Finnish Late Infantile (Finnish Late Infantile Variant, vLINCL) - identified in Finland. | 256731 | CLN5 |
| Type 6 | Variant Late Infantile (Late Infantile Variant, vLINCL) - identified in Costa Rica, South America, Portugal, the United Kingdom and other nations. | 601780 | CLN6 |
| Type 7 | CLN7 | 610951 | MFSD8 |
| Type 8 | CLN8 (Northern Epilepsy, progressive epilepsy with mental retardation (EPMR) | 610003 | CLN8 |
| Type 8 | Turkish Late Infantile (Turkish Late Infantile Variant,vLINCL) - identified in Turkey. | 600143 | CLN8 |
| Type 9 | Identified in Germany and Serbia. | 609055 | Unknown, but possibly regulator of dihydro-ceramide synthase |
| Type 10 | CLN10 (Congenital, Cathepsin D Deficiency) | 116840 | CTSD |
Read more about this topic: Neuronal Ceroid Lipofuscinosis
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