CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

The most common type of Batten disease is CLN3 (juvenile Batten disease). Symptoms of CLN3 usually begin between ages 5 to 15. How rare is Batten disease? Healthcare providers estimate that Batten disease affects about 3 of every 100,000 babies born in the United States.

2016年10月27日 · Juvenile CLN3 disease is caused by changes (mutations) of the CLN3 gene and is inherited as an autosomal recessive trait. It is the most common form of NCL, is found worldwide, and is found particularly in families of Northern European or Scandinavian ancestry.

The foundation worked with Thomson Reuters to gather referenced CLN3 gene and CLN3 protein information and with painstaking attention to detail, validated the information together with experts in CLN3 disease, lysosomal storage disease, and lysosome/endosome biology.

2024年12月24日 · CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid Lipofuscinosis .

CLN3 disease is an inherited disorder that begins in childhood and primarily affects the nervous system. People with this condition develop worsening vision impairment, intellectual disability, movement problems, speech difficulties, and seizures.

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles.

CLN3 Batten disease is a fatal neurodegenerative, lysosomal storage disorder in children. Symptoms begin in early childhood and include vision loss, seizures, and loss of motor function. This disease has no effective, disease-altering treatment …

2021年9月25日 · CLN3 is a multipass transmembrane protein that primarily localizes to endosomes and lysosomes. Defects in endocytosis, autophagy, and lysosomal function are common findings in CLN3-deficiency model systems.