Genetics of the neuronal ceroid lipofuscinoses

The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progressive psychomotor deterioration and death of neocortical neurons. Clinically, four major NCL groups have been identified: infantile, late infantile, juvenile a...

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Bibliographic Details
Published in:Current Opinion in Genetics & Development 2000-06, Vol.10 (3), p.299-305
Main Authors: Peltonen, Leena, Savukoski, Minna, Vesa, Jouni
Format: Article
Language:English
Subjects:
Adolescent
Adult
Animals
Child
Child, Preschool
Chromosome Mapping
Curvilinear profiles
Fingerprint profiles
Genetic Carrier Screening
Granular osmiophilic deposits
Humans
Infant
Neuronal ceroid lipofuscinoses
Neuronal Ceroid-Lipofuscinoses - genetics
Prenatal Diagnosis
Saposins
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Summary:The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progressive psychomotor deterioration and death of neocortical neurons. Clinically, four major NCL groups have been identified: infantile, late infantile, juvenile and adult. In recent years, our understanding of the molecular basis of different NCLs has advanced significantly. The accumulation of autofluorescent material in patients’ tissues has been shown to be caused by defects in either lysosomal enzymes or in novel membrane proteins of unknown function. Although the accumulated material is biochemically well defined and some of the causative mutations are known, a unifying hypothesis for the molecular basis of the NCLs remains elusive. Further work will be required to characterize the interactiving molecules and metabolic pathways involved in the pathogenesis of NCLs.
ISSN:0959-437X
1879-0380
DOI:10.1016/S0959-437X(00)00086-1