Fatal familial insomnia in a new Italian kindred

被引：17

作者：

Padovani, A

D'Alessandro, M

Parchi, P

Cortelli, P

Anzola, GP

Montagna, P

Vignolo, LA

Petraroli, R

Pocchiari, M

Lugaresi, E

Gambetti, P

机构：

[1] Case Western Reserve Univ, Inst Pathol, Div Neuropathol, Cleveland, OH 44106 USA

[2] Univ Brescia, Neurol Clin, Brescia, Italy

[3] Ist Super Sanita, Minist Sanit, I-00161 Rome, Italy

[4] Neurol Clin, Brescia, Italy

[5] Univ Bologna, I-40126 Bologna, Italy

来源：

NEUROLOGY | 1998年 / 51卷 / 05期

关键词：

D O I：

10.1212/WNL.51.5.1491

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report a new kindred with fatal familial insomnia (FFI)-an inherited prion disease. The propositus had behavioral, sleep, cognitive, and motor impairment associated with thalamic and olivary atrophy. Spongiosis was confined to the parahippocampal gyrus. Protease-resistant prion protein (PrPres) was present with widespread distribution. The propositus fits the histopathology of FFI with similar clinical duration and confirms the role of disease duration in determining histopathology and PrPres distribution in FFI.

引用

页码：1491 / 1494

页数：4

共 6 条

[1]

Gambetti P, 1998, BRAIN PATHOL, V8, P571

[2] FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB-DISEASE - CLINICAL, PATHOLOGICAL AND MOLECULAR-FEATURES [J].

GAMBETTI, P ;

PARCHI, P ;

PETERSEN, RB ;

CHEN, SG ;

LUGARESI, E .

BRAIN PATHOLOGY, 1995, 5 (01) :43-51

[3] FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB DISEASE - DISEASE PHENOTYPE DETERMINED BY A DNA POLYMORPHISM [J].

GOLDFARB, LG ;

PETERSEN, RB ;

TABATON, M ;

BROWN, P ;

LEBLANC, AC ;

MONTAGNA, P ;

CORTELLI, P ;

JULIEN, J ;

VITAL, C ;

PENDELBURY, WW ;

HALTIA, M ;

WILLS, PR ;

HAUW, JJ ;

MCKEEVER, PE ;

MONARI, L ;

SCHRANK, B ;

SWERGOLD, GD ;

AUTILIOGAMBETTI, L ;

GAJDUSEK, DC ;

LUGARESI, E ;

GAMBETTI, P .

SCIENCE, 1992, 258 (5083) :806-808

[4] FATAL FAMILIAL INSOMNIA, A PRION DISEASE WITH A MUTATION AT CODON-178 OF THE PRION PROTEIN GENE [J].

MEDORI, R ;

TRITSCHLER, HJ ;

LEBLANC, A ;

VILLARE, F ;

MANETTO, V ;

CHEN, HY ;

XUE, R ;

LEAL, S ;

MONTAGNA, P ;

CORTELLI, P ;

TINUPER, P ;

AVONI, P ;

MOCHI, M ;

BARUZZI, A ;

HAUW, JJ ;

OTT, J ;

LUGARESI, E ;

AUTILIOGAMBETTI, L ;

GAMBETTI, P .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (07) :444-449

[5] REGIONAL DISTRIBUTION OF PROTEASE-RESISTANT PRION PROTEIN IN FATAL FAMILIAL INSOMNIA [J].

PARCHI, P ;

CASTELLANI, R ;

CORTELLI, P ;

MONTAGNA, P ;

CHEN, SG ;

PETERSEN, RB ;

MANETTO, V ;

VNENCAKJONES, CL ;

MCLEAN, MJ ;

SHELLER, JR ;

LUGARESI, E ;

AUTILIOGAMBETTI, L ;

GAMBETTI, P .

ANNALS OF NEUROLOGY, 1995, 38 (01) :21-29

[6] Fatal familial insomnia - Genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred [J].

Rossi, G ;

Macchi, G ;

Porro, M ;

Giaccone, G ;

Bugiani, M ;

Scarpini, E ;

Scarlato, G ;

Molini, GE ;

Sasanelli, F ;

Bugiani, O ;

Tagliavini, F .

NEUROLOGY, 1998, 50 (03) :688-692

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