Paula and Bobby
Parents of Lillie
Ceroid Lipofuscinosis, Neuronal, 1; CLN1
What is Ceroid Lipofuscinosis, Neuronal, 1; CLN1?
Ceroid Lipofuscinosis, Neuronal, 1; CLN1 is a rare disease. It is also known as Batten's disease - infantile Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset CLN1.
This neurodegenerative condition has an onset between the ages of 8 and 18 months. After early normal development, there is regression of motor skills and of vision. All are virtually blind by the age of 2 years and myoclonus is common. The fundal picture is that of optic atrophy, and a brownish discolouration of the maculae. Hypotonia and ataxia are prominent features. Generalized seizures as well as myoclonus occur and the latter might be so severe as to almost result in status. Late in the course of the illness pyramidal tract signs develop. Microcephaly develops.
The EEG is of diagnostic importance in that initially there is abundant theta and delta activity, whereas later in the illness the record becomes almost isoelectric. This, at the age of 3-4 years with a loss of amplitude on the ERG, is very suggestive. Neuronal lipopigment and osmiophilic granular lysosomal inclusions confirm the diagnosis on rectal biopsy. Vacuolated lymphocytes may not be seen by light microscopy but inclusions can be seen on electron miscroscopy. By the third year the child is unresponsive and has very little spontaneous activity but survivial may occur for several more years.
The condition has now been linked to the short arm of chromosome 1, with a very strong allelic association in the Finnish population. Prenatal diagnosis is possible using electron microscopy of chorionic tissue plus linkage (Goebel et al., 1995). Mutations in the palmitoyl protein thioesterase gene have now been identified (Vesa et al., 1995; Salonen et al., 2000). Rider and Rider (1997) give a review of research up to the end of 1996 in an issue of Neuropediatrics devoted to Batten disease (qv). Voznyi et al., (1999) report a simple enzyme assay for the condition. Das et al., (2001) studied the effect of specific mutations on enzyme function. de Vries et al., (1999) report prenatal diagnosis by enzyme assay and CLN1 mutation analysis.
Zhong et al., (2000) studied 252 families affected by childhood ceroid-lipofuscinosis. Thirty-four families had the infantile type, 109 had the late infantile type, and 98 families had the juvenile type. Mutations in the CLN1, CLN2, CLN3 genes were looked for. 70% of mutations were found in the infantile type, 67% in the late infantile type, and 73.5% of mutations in the juvenile type. Of families diagnosed as having the late-infantile type, three were determined to have either the infantile or juvenile type by identification of mutations in the CLN1 or CLN3 genes respectively. Six families diagnosed as having the juvenile type were found to have the late infantile type by finding mutations in CLN2 gene.
Zhong et al., (2000) provide a good review of the molecular basis of the ceroid lipofuscinoses.
* This information is courtesy of the L M D.
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What gene changes cause Ceroid Lipofuscinosis, Neuronal, 1; CLN1?
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 - 256730 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Ceroid Lipofuscinosis, Neuronal, 1; CLN1?
The typical symptoms of the syndrome are:
Seizure, Progressive visual loss, Retinal degeneration, Optic atrophy, Autosomal recessive inheritance, Blindness, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Undetectable electroretinogram, Global developmental delay, Hallucinations, Depressivity, Flexion contracture, Decreased light- and dark-adapted electroretinogram amplitude, Postnatal microcephaly, EEG abnormality, Intellectual disability, Macular degeneration, Loss of speech, Irritability, Abnormality of metabolism/homeostasis, Progressive microcephaly, Muscular hypotonia, Myoclonus, Sleep disturbance, Psychomotor deterioration, Onset, Spasticity
How does someone get tested for Ceroid Lipofuscinosis, Neuronal, 1; CLN1?
The initial testing for Ceroid Lipofuscinosis, Neuronal, 1; CLN1 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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