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.
Angela Schulz practices practicing medicine in Hamburg, Germany. Ms. Schulz is rated as an Elite expert by MediFind in the treatment of CLN2 Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN1 Disease, CLN4 Disease, and CLN5 Disease.
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.
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want ...
Summary: The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy ...
Published Date: November 01, 2016
Published By: National Institutes of Health