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Kufs' disease

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A form of sphingolipidosis with onset of symptoms in adolescence, usually between 21 and 26 years of age. The chief symptoms are progressive mental deterioration, faulty memory, apathy, generalized muscular rigidity, progressive gait and postural deterioration, cerebellar syndrome, extrapyramidal symptoms, myoclonic jerks, ataxia, tremor, and epileptic seizures. Histological findings include extensive storage of ceroid-lipofuscin in the central nervous system, liver, myocardium, and retina (without any ocular manifestations). The disturbance is transmitted as an autosomal recessive trait, but dominant transmission has also been reported.

Kufs documented three affected persons in 1925, 1929 and 1931.

Mayer: One author uses the terms Kufs-Mayer and Mayer-Kufs, but does not state which Mayer. There are plenty of them!

For more information on various forms of amaurotic familial idiocy, see Stengel's syndrome, under
Christian Stengel, German physician in Norway, 1794-1890.


  • H. Kufs:
    Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen.
    Zeitschrift für die gesamte Neurologie und Psychiatrie, 1925, 95: 169-188. Über einen Fall von spätester Form der amaurotischen Idiotie mit dem Beginn im 42 und Tod im 59 Lebensjahre in klinischer, histologischer und vererbungspathologischer Beziehung.
    Zeitschrift für die gesamte Neurologie und Psychiatrie, 1931, 137: 432-448.
  • S. F. Berkovic, S. Carpenter, F. Andermann, E. Andermann, L. Wolfe:
    Kufs disease: clinical features and forms.
    American Journal of Medical Genetics Supplement, New York, 1988, 5: 105-109.

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