家族性额颞叶痴呆与脑干泛素阳性神经元包涵体(法国)  

Familial fronto-temporal dementia with brain stem ubiquitin-positive neuronal inclusions (Fren)

作　　者：Bruni A.C. Kawarai T. Spillantini M.G. J.-F. Foncin 李一明 

机构地区：[1]Laboratoire de Neurohistologie, 47, rue Gén.-Leclerc, 77170 Brie Comte Robert, France

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第5期52-53,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Introduction. Fronto-temporal dementias (FTD) were described a century ago on the macroscopic basis of frontal and/or temporal lobe atrophy. Progress in ne uropathology, immunohistochemistry, biochemistry and genetics has since shown th at they are heterogeneous entities, encompassing many different diseases with si milar clinical presentations. A few, such as tauopathies due to mutations of the gene coding for tau protein (MAPτ .form a well-defined group. Definition and grouping of other types of FTD is still problematic. Material and method. We st udied a family where the mother and 4/8 children were affected with FTD. Clinica l presentation was typical of FTD. Onset was ill-defined with early (at age 40 years or less) personality changes. The clinical course was protracted (about 3 0 years). For a long period, the patients were able to live in the community in spite of obvious signs such as hyperorality and loss of verbal initiative; opera tive orientation as to place was preserved for a long time: a mute patient was s till able to drive. Signs of extrapyramidal or motoneuron involvement were not o bserved. Results. The genetic study failed to detect any mutation in MAPτ ; the lod score for flanking markers was positive but not significant. Biochemical st udy showed no qualitative abnormality in tau protein. Neuropathological study of one affected subject showed brain atrophy (962g), with elective frontal lobe in volvement. Cortical nerve cell loss was more marked in superficial layers and in frontal areas; glia was inconspicuous; pseudolaminar spongiosis was present in the more severely affected zones. No argentophilic “ Pick bodies” were seen; ubiquitin-positive, tau-negative round inclusions were present in the cytopl asm of fascia dentata neurones. “ Tangles” were mostly restricted to the ento rhinal cortex, partly correlated with tau immunoreactivity, but better with ubiq uitin immunoreactivity. Large, ovoid or reniform, moderately dense, spongy, gran ular or filamentous argentophilic cytoplasmiIntroduction. Fronto-temporal dementias (FTD) were described a century ago on the macroscopic basis of frontal and/or temporal lobe atrophy. Progress in ne uropathology, immunohistochemistry, biochemistry and genetics has since shown th at they are heterogeneous entities, encompassing many different diseases with si milar clinical presentations. A few, such as tauopathies due to mutations of the gene coding for tau protein (MAPτ .form a well-defined group. Definition and grouping of other types of FTD is still problematic. Material and method. We st udied a family where the mother and 4/8 children were affected with FTD. Clinica l presentation was typical of FTD. Onset was ill-defined with early (at age 40 years or less) personality changes. The clinical course was protracted (about 3 0 years). For a long period, the patients were able to live in the community in spite of obvious signs such as hyperorality and loss of verbal initiative; opera tive orientation as to place was preserved for a long time: a mute patient was s till able to drive. Signs of extrapyramidal or motoneuron involvement were not o bserved. Results. The genetic study failed to detect any mutation in MAPτ ; the lod score for flanking markers was positive but not significant. Biochemical st udy showed no qualitative abnormality in tau protein. Neuropathological study of one affected subject showed brain atrophy (962g), with elective frontal lobe in volvement. Cortical nerve cell loss was more marked in superficial layers and in frontal areas; glia was inconspicuous; pseudolaminar spongiosis was present in the more severely affected zones. No argentophilic “ Pick bodies” were seen; ubiquitin-positive, tau-negative round inclusions were present in the cytopl asm of fascia dentata neurones. “ Tangles” were mostly restricted to the ento rhinal cortex, partly correlated with tau immunoreactivity, but better with ubiq uitin immunoreactivity. Large, ovoid or reniform, moderately dense, spongy, gran ular or filamentous argentophilic cytoplasmi

关 键 词：额颞叶痴呆 阳性神经元 包涵体 族性 泛素 人格改变 Τ蛋白 三叉神经运动核 桥脑 起病时间 

分 类 号：R749.1[医药卫生—神经病学与精神病学]