infantile neuronal ceroid lipofuscinosis (INCL)

Clinical manifestations: 1) mental retardation 2) speech loss 3) minor motor seizures 4) hypotonia 5) ataxia 6) myoclonic jerks 7) microcephaly 8) optic atrophy 9) blindness 10) premature death (8-11 years of age)

Specific

infantile neuronal ceroid lipofuscinosis 1 (Hagberg-Santavuori type, CLN1) infantile neuronal ceroid lipofuscinosis 2 (Bielschowsky-Jansky type, CLN2) infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis) variant late onset infantile neuronal ceroid lipofuscinosis

Properties

ACCUMULATION: lipofuscin ceroid