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infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis)
Genetics:
- associated with defects in CLN5 gene
Clinical manifestations:
1) fatal childhood neurodegenerative disease
2) progressive visual & mental decline
3) motor disturbance
4) epilepsy
5) behavioral changes
6) first symptom is motor clumsiness, followed by
a) progressive visual failure
b) mental & motor deterioration
c) later, myoclonia & seizures
Laboratory:
- CLN5 gene mutation
Related
ceroid-lipofuscinosis neuronal protein 5 (CLN5)
chromosomal aberration
lipofuscin
General
infantile neuronal ceroid lipofuscinosis (INCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 256731
References
OMIM :accession 256731