In vivo diagnosis of Kufs’ disease by extracerebral biopsies
Abstract In almost all of the earlier reported cases of Kufs’ disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs’ disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs’ disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
1998 |
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| Erschienen: |
1998 |
| Reproduktion: |
Springer Online Journal Archives 1860-2002 |
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| Enthalten in: |
Zur Gesamtaufnahme - volume:96 |
| Enthalten in: |
Acta neuropathologica - 96(1998) vom: Jan., Seite 102-108 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Gelot, A. [Sonstige Person] |
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| Links: |
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| Umfang: |
7 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLEJ203622480 |
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| 245 | 1 | 0 | |a In vivo diagnosis of Kufs’ disease by extracerebral biopsies |
| 264 | 1 | |c 1998 | |
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| 520 | |a Abstract In almost all of the earlier reported cases of Kufs’ disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs’ disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs’ disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement. | ||
| 533 | |f Springer Online Journal Archives 1860-2002 | ||
| 700 | 1 | |a Gelot, A. |4 oth | |
| 700 | 1 | |a Maurage, C. A. |4 oth | |
| 700 | 1 | |a Rodriguez, D. |4 oth | |
| 700 | 1 | |a Perrier-Pallisson, D. |4 oth | |
| 700 | 1 | |a Larmande, P. |4 oth | |
| 700 | 1 | |a Ruchoux, M. M. |4 oth | |
| 773 | 0 | 8 | |i in |t Acta neuropathologica |d 1961 |g 96(1998) vom: Jan., Seite 102-108 |w (DE-627)NLEJ188990917 |w (DE-600)1458410-4 |x 1432-0533 |7 nnns |
| 773 | 1 | 8 | |g volume:96 |g year:1998 |g month:01 |g pages:102-108 |g extent:7 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s004010050866 |
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