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neuronal ceroid lipofuscinosis
Classification:
1) infantile (Haberg-Santavuori)
2) late-infantile (Bielschowsky-Jansky)
3) early juvenile (Lake-Cavanagh)
4) juvenile (Batten-Mayou, Spielmeyer-Vogt)
5) adult (Kufs)
6) at least 8 different forms
Pathology:
1) brain atrophy
a) cerebrum & cerebellum atrophied
b) brainstem relatively spared
2) neurons are not ballooned as in gangliosidosis
3) lipofuscin or ceroid fills cytoplasm of affected neurons
a) PAS+, sudanophilic, acid-fast, autofluorescent
b) autofluorescence distinguishes from lipofuscin pigment of old age
c) lipofuscin consists largely of ATP synthase subunit C
4) astrocytosis
5) neurofibrillary tangle
Genetics:
- autosomal recessive
- associated with defects in ATP5G1, ATP5G2, ATP5G3, CLN3
Clinical manifestations:
- seizures
- dementia
- visual loss
Laboratory:
- diagnosis by conjunctival biopsy
- curvilinear structures on electron microscopy
Related
ceroid-lipofuscinosis neuronal protein
lipofuscin
Specific
adult neuronal ceroid lipofuscinosis/cerebral sphingolipidosis (Kufs type)
infantile neuronal ceroid lipofuscinosis (INCL)
juvenile neuronal ceroid lipofuscinosis (JNCL)
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 3 (Batten disease, Batten-Mayou disease)
neuronal ceroid lipofuscinosis 7
General
ceroid lipofuscinosis
Properties
ACCUMULATION: lipofuscin
ceroid
References
- Greenfield's Neuropathology, 5th edition, Adams JH &
Duchen LW, (eds), Oxfird University Press, NY, 1992, pg 721