neuronal ceroid lipofuscinosis

Classification

• infantile (Haberg-Santavuori)
• late-infantile (Bielschowsky-Jansky)
• early juvenile (Lake-Cavanagh)
• juvenile (Batten-Mayou, Spielmeyer-Vogt)
• adult (Kufs)
• at least 8 different forms

Pathology

• brain atrophy
  • cerebrum & cerebellum atrophied
  • brainstem relatively spared
• neurons are not ballooned as in gangliosidosis
• lipofuscin or ceroid fills cytoplasm of affected neurons
  • PAS+, sudanophilic, acid-fast, autofluorescent
  • autofluorescence distinguishes from lipofuscin pigment of old age
  • lipofuscin consists largely of ATP synthase subunit C
• astrocytosis
• 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

More general terms

• ceroid lipofuscinosis

More specific terms

• 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

Additional terms

• ceroid-lipofuscinosis neuronal protein
• lipofuscin