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Schulz A
; Kohlschütter A
; Mink J
; Simonati A
; Williams R
Biochim Biophys Acta
2013[Nov]; 1832
(11
): 1801-6
PMID23602993
show ga
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and
together are the most common degenerative brain diseases in childhood. They are a
group of disorders linked by the characteristic accumulation of abnormal storage
material in neurons and other cell types, and a degenerative disease course. All
NCLs are characterized by a combination of dementia, epilepsy, and motor decline.
For most childhood NCLs, a progressive visual failure is also a core feature. The
characteristics of these symptoms can vary and the age at disease onset ranges
from birth to young adulthood. Genetic heterogeneity, with fourteen identified
NCL genes and wide phenotypic variability render diagnosis difficult. A new NCL
classification system based on the affected gene and the age at disease onset
allows a precise and practical delineation of an individual patient's NCL type. A
diagnostic algorithm to identify each NCL form is presented here. Precise NCL
diagnosis is essential not only for genetic counseling, but also for the optimal
delivery of care and information sharing with the family and other caregivers.
These aspects are challenging because there are also potential long term
complications which are specific to NCL type. Therefore care supported by a
specifically experienced team of clinicians is recommended. As the underlying
pathophysiological mechanism is still unclear for all NCL forms, the development
of curative therapies remains difficult. This article is part of a Special Issue
entitled: The neuronal ceroid lipofuscinoses or Batten Disease.
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