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The adult and a new late adult forms of neuronal ceroid lipofuscinosis

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Summary

Three cases of the late adult form of neuronal ceroid lipofuscinosis (NCL) are reported. Two of these are siblings with a late clinical onset at ages 26 and 44 years. The third case, sporadic, has the oldest reported age for the onset of NCL, at 63 years and may be regarded as the first example of the “presenile” form of NCL. The clinical, morphological, histochemical, ultrastructural and genetic features of these three cases are discussed. The literature of the clinicopathological NCL cases with an onset at age of 25 and older is reviewed. The clinical and morphological differences between the late adult form and the presenile form of NCL as well as the difficulties in making the diagnosis are discussed.

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Authors and Affiliations

  1. Psychiatric Institutions, Research Department of Morphological Psychopathology, Geneva University, Bel-Air, CH-1225, Geneva, Switzerland

    J. Constantinidis

  2. New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, 10314, Staten Island, NY, USA

    K. E. Wisniewski

  3. Department of Neurology, New York University Medical Center, 550 First Avenue, 10016, New York, NY, USA

    T. M. Wisniewski

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  1. J. Constantinidis
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Supported by NIH Grant NS23717

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Constantinidis, J., Wisniewski, K.E. & Wisniewski, T.M. The adult and a new late adult forms of neuronal ceroid lipofuscinosis. Acta Neuropathol 83, 461–468 (1992). https://doi.org/10.1007/BF00310021

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  • DOI: https://doi.org/10.1007/BF00310021

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