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adult neuronal ceroid lipofuscinosis/cerebral sphingolipidosis (Kufs type)
Rare form of inherited sphingolipidosis.
Epidemiology:
1) rare
2) onset in 30s
Genetics:
1) autosomal recessive
2) autosomal dominant in 5 generations of 1 family
3) associated with mutations in PPT1 gene
Pathology:
1) see neuronal ceroid lipofuscinosis (Batten's disease)
2) neurofibrillary tangles without amyloid plaques [2]
Clinical manifestations:
1) type A
- progressive myoclonic epilepsy (presenting sign)
- dementia (later sign)
- ataxia (later sign)
- photosensitivity
2) type B
- behavioral changes
- dementia
- movement disorders
Related
chromosomal aberration
Kufs, Hugo
lipofuscin
General
neuronal ceroid lipofuscinosis
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 204300
References
- Stedman's Medical Dictionary 27th ed, Williams &
Wilkins, Baltimore, 1999
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343
- Greenfield's Neuropathology, 5th edition, Adams JH &
Duchen LW, (eds), Oxfird University Press, NY, 1992, pg 722