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Titolo:
CNS manifestations of Nasu-Hakola disease - A frontal dementia with bone cysts
Autore:
Paloneva, J; Autti, T; Raininko, R; Partanen, J; Salonen, O; Puranen, M; Hakola, P; Haltia, M;
Indirizzi:
Univ Helsinki, Dept Pathol, FIN-00290 Helsinki, Finland Univ Helsinki Helsinki Finland FIN-00290 ol, FIN-00290 Helsinki, Finland Natl Publ Hlth Inst, Dept Human Mol Genet, Helsinki, Finland Natl Publ Hlth Inst Helsinki Finland Human Mol Genet, Helsinki, Finland Univ Helsinki, Cent Hosp, Dept Pathol, Helsinki, Finland Univ Helsinki Helsinki Finland ent Hosp, Dept Pathol, Helsinki, Finland Kuopio Univ Hosp, Dept Clin Neurophysiol, SF-70210 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland SF-70210 ysiol, SF-70210 Kuopio, Finland Kuopio Univ Hosp, Dept Radiol, SF-70210 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland SF-70210 adiol, SF-70210 Kuopio, Finland Kuopio Univ Hosp, Dept Forens Psychiat, SF-70210 Kuopio, Finland Kuopio Univ Hosp Kuopio Finland SF-70210 chiat, SF-70210 Kuopio, Finland Uppsala Univ, Dept Radiol, Uppsala, Sweden Uppsala Univ Uppsala SwedenUppsala Univ, Dept Radiol, Uppsala, Sweden Univ Helsinki, Cent Hosp, Dept Radiol, Helsinki, Finland Univ Helsinki Helsinki Finland ent Hosp, Dept Radiol, Helsinki, Finland
Titolo Testata:
NEUROLOGY
fascicolo: 11, volume: 56, anno: 2001,
pagine: 1552 - 1558
SICI:
0028-3878(20010612)56:11<1552:CMOND->2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA; MEMBRANOUS LIPODYSTROPHY; PRESENILE-DEMENTIA; SCLEROSING LEUKOENCEPHALOPATHY; TAU-GENE; BRAIN; ACTIVATION; MUTATION; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Haltia, M Univ Helsinki, Dept Pathol, Haartmaninkatu 3, FIN-00290 Helsinki, Finland Univ Helsinki Haartmaninkatu 3 Helsinki Finland FIN-00290 nland
Citazione:
J. Paloneva et al., "CNS manifestations of Nasu-Hakola disease - A frontal dementia with bone cysts", NEUROLOGY, 56(11), 2001, pp. 1552-1558

Abstract

Background: Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a genetically heterogeneous disease characterized by a combination of systemic bone cysts and dementia. Objective: The authors present a neurologic, neuroradiologic, and neuropathologic analysis of a series of PLOSL patients in which the diagnosis hasbeen confirmed by molecular genetic methods. Methods: Clinical, neurophysiologic, and imaging follow-up data on eight patients as well as autopsy samples of three patients were analyzed in this study. All eight patients werehomozygous fora loss-of-function mutation in the DAP12 gene. Results. In most patients, the disease debuted with pain in ankles and wrists after strain during the third decade, followed by fractures caused by cystic lesions in the bones of the extremities. Frontal lobe syndrome and dementia began to develop by age 30, leading to death by age 40. Neuroimaging disclosed abnormally high and progressively increasing bicaudate ratios and calcifications in the basal ganglia as well as increased signal intensities of the white matter on TP-weighted MR images even before the appearance of clinical neurologic symptoms. Three patients who had undergone autopsies showed an advanced sclerosing leukoencephalopathy with frontal accentuation, widespread activation of microglia, and microvascular changes. Conclusions: Although PLOSL in most patients manifests by bone fractures, some patients do not show any osseous symptoms and signs before the onset of neurologic manifestations. Consequently, patients with frontal-type dementia of unknown origin should be investigated by x-ray of ankles and wrists. The current results suggest early basal ganglia involvement in PLOSL.

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Documento generato il 05/07/20 alle ore 12:26:20