Neuronal ceroid lipofuscinosis type 2
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2): Overview
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, progressive, and ultimately fatal neurodegenerative disorder, named after three distinct diseases first identified in the late nineteenth century; Batten disease, Kufs disease, and Spielmeyer-Vogt disease. It is a member of the group of genetic diseases known as the Neuronal Ceroid Lipofuscinoses (NCLs). CLN2 is caused by a mutation in the TPP1 gene and is inherited in an autosomal recessive fashion.
Individuals with CLN2 typically present in childhood, usually between the ages of 4-7, with slowly progressive vision loss, cognitive decline, and motor impairment. Other common clinical features include language delay or regression, seizures, ataxia, and the early onset of dementia.
Characteristics of CLN2
- Autosomal recessive inheritance.
- Onset usually between ages 4-7, although can range from infancy to late adolescence.
- Slowly progressive vision loss caused by retinal degeneration.
- Cognitive decline and regression.
- Motor impairment such as ataxia and dystonia.
- Language delay or regression.
- Seizures.
- Early onset of dementia.
Treatments and Management for CLN2
Currently, there is no cure for CLN2 and treatment focuses primarily on managing symptoms and slowing progression of the disease. Treatment typically includes medication for seizure control and cognitive enhancement, as well as supportive therapies to help with communication, eating, and mobility.
Ongoing research is focused on developing potential treatments that may slow or stop the progression of CLN2. Several promising clinical trials are in progress using gene replacement therapy and small-molecule therapies.
