SNP Shot: Genomic Insights

CLN10 disease is a critical illness impacting the nervous system. It typically manifests shortly after birth with symptoms such as stiff muscles, breathing difficulties, and prolonged seizures lasting several minutes (status epilepticus). In some cases, seizures may occur before birth. Affected infants often have abnormally small heads (microcephaly) and severely reduced brain size. The disease leads to brain cell loss in the cerebellum, responsible for coordination, and the cerebral cortex, which governs thought and emotions. Furthermore, nerve cells lack myelin, a vital protective and conductive substance. Sadly, infants with CLN10 disease often survive only for a few hours or weeks after birth.

A less common form of CLN10 disease emerges later in life, ranging from late infancy to adulthood. These individuals experience a progressive decline in brain cells, leading to balance and coordination issues (ataxia), speech impairment, cognitive decline, and vision loss. The lifespan of individuals with later-onset CLN10 disease is reduced, with the extent of reduction varying based on the age of symptom onset.

CLN10 disease belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs), all of which affect the nervous system. These disorders are characterized by progressive vision, movement, and cognitive problems. NCL subtypes are differentiated by their genetic origin and are designated as "CLN" followed by a number indicating the specific subtype.

Inheritance:

CLN10 disease follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry one copy of the mutated gene, are typically unaffected carriers.