Neuronal ceroid lipofuscinoses (NCL). Metabolic diseases causing childhood dementia

作者：Schulz A^*; Kohlschuetter A

来源：Monatsschrift Kinderheilkunde, 2012, 160(8): 734-+.

DOI：10.1007/s00112-012-2685-6

• Brain
• Retina
• Metabolic diseases
• Genetics
• Diagnosis

Neuronal ceroid lipofuscinoses (NCL) are a group of lysosomal storage disorders which are the most common degenerative brain diseases in childhood. All NCL forms are characterized by a combination of dementia, visual loss, epilepsy and decline in motor skills. The characteristics of these symptoms can vary and the age at disease onset ranges from birth to young adulthood. The genetic heterogeneity with 14 identified NCL genes (CLN1-CLN14) as well as a high phenotype variability render the diagnosis difficult. A new NCL classification based on the affected gene and the age at disease onset allows a precise and practicable definition of each form of NCL. A clear diagnostic algorithm to identify each NCL form is presented. A precise diagnosis is essential not only for genetic counseling of the affected family but also for specialized palliative care. The latter represents a true challenge due to various possible complications. Therefore, collaboration with a specialized team of NCL clinicians is recommended. As the underlying pathomechanism remains unclear for all NCL forms, the development of curative therapies is still difficult.

• 出版日期2012-8