CLN2 DiseaseSymptoms, Doctors, Treatments, Advances & More
CLN2 Disease Overview
Learn About CLN2 Disease
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
Mutations in the TPP1 gene cause CLN2 disease. The TPP1 gene provides instructions for producing an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. Tripeptidyl peptidase 1 breaks down protein fragments, known as peptides, into their individual building blocks (amino acids).
In the Newfoundland province of Canada, the incidence of CLN2 disease is estimated to be 9 in 100,000 births. The incidence of the condition outside of this population is unknown. More than 300 cases worldwide have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Paul Gissen practices practicing medicine in London, United Kingdom. Mr. Gissen is rated as an Elite expert by MediFind in the treatment of CLN2 Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses CLN2 Disease, Argininosuccinic Aciduria, CLN4 Disease, CLN3 Disease, and Liver Transplant.
Miriam Nickel practices practicing medicine in Hamburg, Germany. Ms. Nickel is rated as an Elite expert by MediFind in the treatment of CLN2 Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN3 Disease, CLN1 Disease, and CLN5 Disease.
Nicola Specchio practices practicing medicine in Rome, Italy. Ms. Specchio is rated as an Elite expert by MediFind in the treatment of CLN2 Disease. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Epilepsy, Myoclonic Epilepsy, CLN2 Disease, Seizures, and Deep Brain Stimulation.
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.
Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Published Date: November 01, 2016
Published By: National Institutes of Health