📂 Diseases
juvenile neuronal ceroid lipofuscinosis — Definition
juvenil nöronal seroid lipofuskinoz / juvenile neuronal ceroid lipofuscinosis
Juvenile neuronal seroid lipofuskinosis (JNCL), usually starting between 4-10 years, is a sedative disease. It is characterized by intracellular lipopigment accumulation and leads to distortion in vision loss, epileptic seizures, motor and cognitive functions. The disease shows autozomal resessive inheritance due to mutations in CLN3 gene and is typically resulted in death during early adulthood.
Frequently Asked Questions
❓ What is juvenil nöronal seroid lipofuskinoz?
juvenil nöronal seroid lipofuskinoz; juvenile neuronal seroid lipofuskinosis (JNCL), usually starting between 4-10 years, is a sedative disease. It is characterized by intracellular lipopigment accumulation and leads to distortion in vision loss, epileptic seizures, motor and cognitive functions. The disease shows autozomal resessive inheritance due to mutations in CLN3 gene and is typically resulted in death during early adulthood.
❓ What is juvenile neuronal ceroid lipofuscinosis in Turkish?
The Turkish equivalent of "juvenile neuronal ceroid lipofuscinosis" is juvenil nöronal seroid lipofuskinoz.
❓ Which medical field is juvenil nöronal seroid lipofuskinoz related to?
This term belongs to the Diseases category.