Über die Bedeutung der optischen Komponente der amaurotischen Idiotie in diagnostischer und erbbiologischer Beziehung und über die Existenz „spätester” Fälle bei dieser Krankheit

Kufs, H.

doi:10.1007/bf02870245

Cited by 13 publications

(3 citation statements)

References 4 publications

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“…Further, it is of interest to bear in mind that the father of the two original siblings affected by adult NCL [Kufs, 1925], who had not experienced visual impairment, had retinitis pigmentosa, but no neurological symptoms, which prompted Kufs to write a lengthy speculative paper on the association of adult NCL and retinitis pigmentosa [Kufs, 1927]. Thus, since adult NCL had for the first time been reported [Kufs, 1925] the aspect of absent or associated retinal degeneration has been part of the nosological discussion.…”

Section: Discussionmentioning

confidence: 99%

Ultrastructure of the Retina in Adult Neuronal Ceroid Lipofuscinosis

Goebel

Schochet

Jaynes

et al. 1998

Cells Tissues Organs

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A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs’ disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology of adult NCL with and without retinal degeneration.

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Section: Discussionmentioning

confidence: 99%

Ultrastructure of the Retina in Adult Neuronal Ceroid Lipofuscinosis

Goebel

Schochet

Jaynes

et al. 1998

Cells Tissues Organs

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“…Kufs' [1][2][3][4] papers concerned 3 patients with an adult onset progressive neurodegenerative disorder, morpho logically characterized by the so-called intraneuronal Schaffer-Spielmeyer's process of storage. Modern crite ria could not be applied retrospectively and original tis sues have not been retrieved [5].…”

Section: Introductionmentioning

confidence: 99%

Adult Type of Neuronal Ceroid Lipofuscinosis

Jj¹

1991

Dev Neurosci

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Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs'' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs'' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance.

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“…Likewise, it is a small part of the nosological spectrum of NCL as the majority of patients and clinical forms occur in childhood. Since Hugo Kufs, a neurologist and pathologist from Leipzig, Germany, reported cases in two adult siblings and an unrelated adult patient [5][6][7][8], 118 patients have been reported to have Kufs' disease. Only 50 of these cases, i.e.…”

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confidence: 99%