Ceroid Lipofuscinosis, Neuronal, 6; CLN6

What is Ceroid Lipofuscinosis, Neuronal, 6; CLN6?

Ceroid Lipofuscinosis, Neuronal, 6; CLN6 is a rare disease. It is also known as Ceroid lipofuscinosis - Costa Rican variant Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset Ceroid-lipofuscinosis - Costa Rican variant CLN6 CLN6 - Gypsy/Indian variant CLN7 CLN7 - Turkish variant.

Classic, infantile ceroid lipofuscinosis has now been mapped to 11p15 (Sharp et al., 1997). In the same paper the authors have mapped another 'variant ceroid lipofuscinosis' to chromosome 15q21-23. It seems to differ from the classical late infantile form only in that there is a mixed picture histologically. Initial symptoms include myoclonic jerks, motor clumsiness, ataxia and seizures. Visual deficit occurs next, followed by dementia
In a follow-up of the MRI features, Pena et al., (2001) suggest that the combination of diencephalic and putaminal abnormalities, with progressive cerebral and cerebellar atrophy, is charactertistic.
Gao et al., (2002) and Wheeler et al., (2002) demonstrated mutations in a novel gene at 15q21-23. Mutations were also found in the murine homologue in the nclf mouse.

* This information is courtesy of the L M D.

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What gene changes cause Ceroid Lipofuscinosis, Neuronal, 6; CLN6?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 601780 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
MAPK3 - 16p11.2
SYP - Xp11.23
GSK3B - 3q13.33
MAPK1 - 22q11.22
CLN6 - 15q23
STX6 - 1q25.3

What are the main symptoms of Ceroid Lipofuscinosis, Neuronal, 6; CLN6?

The typical symptoms of the syndrome are:
Seizure, Progressive visual loss, Retinal degeneration, Autosomal recessive inheritance, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Fingerprint intracellular accumulation of autofluorescent lipopigment storage material, Increased neuronal autofluorescent lipopigment, Motor deterioration, Abnormal nervous system electrophysiology

How does someone get tested for Ceroid Lipofuscinosis, Neuronal, 6; CLN6?

The initial testing for Ceroid Lipofuscinosis, Neuronal, 6; CLN6 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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