CLN5-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN5 gene, leading to progressive brain degeneration and the gradual loss of both cognitive and motor abilities. This condition typically results in blindness and a premature fatality. NCL comprises various forms, primarily distinguished by the responsible gene and the age at which symptoms manifest.
CLN5-related NCL is an inherited disorder known for its brain degeneration, causing a progressive decline in intellectual capacities and motor skills. This condition also results in blindness, seizures, and often an untimely demise. NCL comprises several forms primarily differentiated by the responsible gene and the age of symptom onset. Mutations in the CLN5 gene contribute to a form of NCL commonly referred to as the Finnish variant of late-infantile NCL. Symptoms of CLN5-related NCL typically commence between ages 4 and 7. By age 10, affected children typically experience vision loss, accompanied by seizures, intellectual impairment, muscle spasms, and diminished control over muscle movements (ataxia). Independent walking ability is generally lost between ages 8 and 11, followed by a gradual decline in speech and the emergence of profound intellectual disability.
This form of NCL is caused by pathogenic (disease-causing) variants in the CLN5 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are Finnish variant late infantile neuronal ceroid lipofuscinosis, Finnish vLINCL, Jansky-Bielschowsky disease, late-infantile neuronal ceroid lipofuscinosis, and neuronal ceroid lipofuscinosis 5.
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Revised September 2023
