Problem
Neuronal ceroid lipofuscinosis
Other Names:
NCLsSpielmeyer-Vogt-Sjogren-Batten disease
Batten's disease
Inherited metabolic storage diseases concerning proteins
Nature:
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parrys) disorder. In all cases, symptoms of neuronal ceroid lipofuscinosis (NCL) are linked to a buildup of substances called lipopigments in the body's tissues. Batten disease is the most common form of this group of disorders. They strike without warning, affecting vision and causing seizures or convulsions.
Incidence:
There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but they become apparent at different ages and progress at different rates.
Broader Problems:
Lipid storage disorderLysosomal storage diseasesDiseases and injuries of the brain Narrower Problems:
Kufs diseaseSantavuori-Haltia diseaseBielschowsky-Jansky disease Aggravates:
SeizuresConvulsions Organizations:
Asociación Panamericana de Trauma Ocular (APTO)Association of European Ocularists (AEO)European Society of Cornea and Ocular Surface Disease Specialists (EuCornea)International Ocular Inflammation Society (IOIS)International Society of Ocular Oncology (ISOO)International Society of Ocular Trauma (ISOT)Pan-American Society of Inflammatory Ocular DiseasesPan-American Society of Ocular Pathology - Lorenz E Zimmerman (Zimmerman Society)Middle East - Africa Club of Oncology and Ocular Pathology (MEACOOP)World Federation of Neurology (WFN)International Child Neurology Association (ICNA)European Academy of Neurology (EAN)European College of Veterinary Neurology (ECVN)International Danube Neurology Association of Central and East Europe Subject(s):
Biosciences → BiochemistryBiosciences → Proteins
Medicine → Locomotive, integumentary system
Medicine → Nervous system
Medicine → Pathology
Transportation, Telecommunications → Storage
Related UN Sustainable Development Goals:
Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST