Learn About CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
Mutations in the PPT1 gene cause CLN1 disease. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes fats called long-chain fatty acids from certain proteins, which helps to break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions.
The incidence of CLN1 disease is unknown; more than 200 cases have been described in the scientific literature. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.
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.
Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of CLN1 Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
Angela Schulz practices in Hamburg, Germany. Ms. Schulz is rated as an Elite expert by MediFind in the treatment of CLN1 Disease. Her top areas of expertise are CLN2 Disease, Batten Disease, CLN1 Disease, and CLN5 Disease.
Zhongjian Zhang practices in Xinxiang, China. Zhang is rated as an Elite expert by MediFind in the treatment of CLN1 Disease. Their top areas of expertise are CLN4 Disease, CLN5 Disease, CLN3 Disease, and CLN1 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: This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Published Date: March 01, 2018
Published By: National Institutes of Health