SNP Shot: Genomic Insights

CLN5 disease is a genetic condition that mainly impacts the nervous system. While the onset of symptoms can vary from childhood to early adulthood, it most commonly begins around the age of 5. Children with CLN5 disease often develop normally initially, before experiencing the first signs. These early signs usually involve movement difficulties that may present as clumsiness, along with the loss of previously learned motor skills (developmental regression). Other common features include recurring seizures characterized by involuntary muscle jerks (myoclonic epilepsy), impaired coordination (ataxia), vision impairment, speech difficulties, and a decline in cognitive abilities. The lifespan of individuals with CLN5 disease is variable, but they generally live into their teens or middle age.

CLN5 disease belongs to a group of related disorders called neuronal ceroid lipofuscinoses (NCLs), often referred to as Batten disease. These disorders commonly affect the nervous system, resulting in progressive issues with vision, motor skills, and cognitive function. NCLs are differentiated by their specific genetic cause. Each type is designated as "CLN" (ceroid lipofuscinosis, neuronal) followed by a number identifying the specific subtype.

Inheritance:

CLN5 disease follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the gene, one from each parent, to develop the condition. Parents who carry only one copy of the mutated gene typically do not exhibit any signs or symptoms of the disease.