额颞叶痴呆患者的临床特征与早期诊断

目的:探讨额颞叶痴呆患者的临床特征,为早期诊断提供依据. 方法:回顾性分析16例额颞叶痴呆患者的临床特点. 结果:额颞叶痴呆早期的首发症状以人格改变(75％)、精神行为症状(12.5％)、语言障碍(25％)或(伴)记忆力下降(50％)等为主.伴随认知功能的逐步下降,患者会逐渐出现各种非特异的症状表现如淡漠、失眠、注意力不集中、异常或刻板行为、易激惹、口欲亢进、脱抑制及收藏癖.额颞叶痴呆的首次诊断符合率总体在50％左右. 结论:额颞叶痴呆患者症状丰富且无特异性,早期诊断需要综合考虑,特别要警惕痴呆患者的首发症状.     

额颞叶痴呆

额颞叶痴呆是中枢神经系统的一种退行性疾病,临床上表现为隐袭起病,进展性发展的行为异常和语言障碍,影像学检查可获得额颞叶萎缩和低代谢的依据,病理组织主要表现为神经元的丢失,嗜伊红肿胀的神经元,胶质增生,表层神经毡的海绵样或空胞样变,及出现Pick小体,这些变化轻重不同可形成三种不同的病理类型。分子生物学研究表明额颞叶痴呆是一种tau蛋白相关性疾病。     

非流利失语型额颞叶痴呆患者神经心理学特征及皮质代谢功能变化

目的 正规的认知功能评价结合脱氧葡萄糖正电子发射断层摄影术(FDG-PET)检查和影像学改变,分析非流利失语型额颞叶痴呆(FTD)患者的神经心理学特征.方法 选择临床、影像、皮质葡萄糖代谢功能以及神经心理学评价均符合非流利失语型FTD患者,动态评价其神经语言学以及多种认知功能.按其特殊的神经心理学特点结合FDG-PET分析神经心理学改变的皮质基础.结果 5例患者的核心症状均为隐袭起病、慢性进行性的非流利型失语,伴随的突出改变为视空间、字词级阅读保留好,记忆相对好,以非语言记忆保留更突出.生活适应能力损害相对晚.患者均有相应的皮质糖代谢改变基础.结论 非流利失语型FTD患者的视空间能力、字词级阅读能力以及生活适应能力损害晚,与相应的皮质代谢功能相关,可以帮助照料者有效指导、调整患者的适应能力训练.     

额颞叶痴呆和阿尔茨海默病的神经心理学特征比较

目的比较不同痴呆程度的额颞叶痴呆(FTD)和阿尔茨海默病(AD)患者神经心理学特征的差异。方法应用神经心理学量表评价27例FTD患者和36例AD患者的认知功能。结果无论何种痴呆程度,FTD组患者神经精神问卷(NPI)评分均显著高于AD组(P<0.05)。轻度AD组患者日常活动能力量表(ADL)评分略高于FTD组(P=0.046),中重度FTD组患者的简易精神状态检查量表(MMSE)评分(P=0.021)和画钟测验(CDT)评分(P=0.004)均低于AD组。在临床痴呆评定量表(CDR)各功能域评分中,轻度AD患者定向力(P=0.030)与工作和社会交往能力(P=0.039)评分高于FTD组,中重度FTD患者在CDR总分(P=0.011)和判断与解决问题的能力评分上高于AD(P=0.007)。结论临床工作中对痴呆患者进行全面的神经心理学检查有助于鉴别FTD和AD。     

额颞叶痴呆误诊为精神分裂症1例

1病例 男,49岁,因"行为异常,记忆力减退5年"于2011年6月15日就诊.患者5年前无明显原因出现性格改变、冷漠、记忆及能力下降,2年后已不能胜任工作,生活能力也明显下降,购物困难,说话、做事重复.2年前首诊于外院精神科,疑诊为"精神分裂症",给予"利培酮1 ～4 mg/d",4个月后因无效改为"舍曲林25～50 mg/d"1个多月,仍无效而停药.1年前在停车场连续撞车被交警强行制服而再次就诊,服用"奥氮平10 mg/d及舒必利0.4 g/d"1个半月无效;此后记忆更差,不识路,行为无节制,不礼貌.再次就诊拟"人格改变",给予"喹硫平及氟哌啶醇治疗",无效.     

额颞叶痴呆的研究进展

额颞叶痴呆是一种原发性退行性痴呆,核心症状为缓慢发生、进行性加重的行为和语言障碍。本文就其分子生物学、神经病理、临床诊断、影像学及神经心理学等方面的研究进展进行综述。     

~(18)F-FDG PET显像鉴别阿尔茨海默病与额颞叶痴呆临床价值

目的探讨18F-FDG PET显像在阿尔茨海默病与额颞叶痴呆鉴别诊断中的应用价值。方法对临床明确诊断的阿尔茨海默病(20例)和行为异常型额颞叶痴呆(20例)患者的18F-FDG PET显像资料进行回顾,分析两组患者皮质代谢降低脑区间的差异。结果视觉分析显示,两组患者均表现为皮质代谢降低,阿尔茨海默病患者以双侧颞顶叶和后扣带回代谢降低明显,以及部分额叶皮质代谢降低,而基底节和丘脑不受累,18/20患者双侧大脑半球皮质代谢降低范围和程度基本对称;额颞叶痴呆患者额叶和前颞叶皮质代谢均降低,其中11例同时伴部分顶叶皮质和基底节、丘脑等皮质下核团不同程度降低,16/20患者双侧大脑半球代谢降低程度和范围明显不对称,4例以右侧为主、12例以左侧为主。结论由于18F-FDG PET显像所显示的阿尔茨海默病和额颞叶痴呆患者之皮质代谢降低图型不同,故具有较好的鉴别诊断价值。     

青年额颞叶痴呆1例报告

<正>额颞叶痴呆(FTD)是中老年患者缓慢出现人格改变、言语障碍及行为异常,影像学上表现为额颞叶萎缩的一种痴呆综合征。我科收治1例青年额颞叶痴呆患者,报告如下。1病例男,32岁,医生,因"性格、行为及言语异常2年"于2009年7月18日入院。2年前患者家人发现其性格孤僻,寡言少语,行为懒散,逐渐进展为放纵、鲁莽行为。1年前开车冲上人行道撞死1人,但自认为无过错,表情冷漠。同年11     

语义性痴呆患者的临床、影像及神经心理学特点

目的 探讨语义性痴呆( semantic dementia,SD)患者的临床、影像和神经心理学特点.方法 SD患者18例,详细收集患者的临床资料,进行头MRI检查和神经心理评估,神经心理评估包括语义记忆(物体命名任务)、总体认知功能评估[简易精神状态检查(Mini-mental State Examination,MMSE)]、视空间能力[画钟测验(Clock Drawing Test,CDT)]、日常生活能力[日常生活能力量表( Activities of Daily Living,ADL)]、精神行为症状[神经精神问卷(Neuropsychiatric Inventory,NPI)]及总体严重程度[改良额颞叶变性临床痴呆评定量表( Frontotemporal Lobar Degeneration Modified Clinical Dementia Rating Scale,FTLD-CDR)]的评估.结果 患者发病年龄(60.6±8.5)岁,5例于65岁后发病,均以找词困难、命名障碍为首发症状,10例主诉有记忆障碍,14例出现人格行为改变.5例曾被诊断为阿尔茨海默病( Alzheimer's disease,AD),1例诊断为精神分裂症,无一例患者此前被明确诊断为SD.语义记忆评估显示所有患者对生命类和非生命类物体的名称及功能均有明显遗忘.MMSE(10.94±8.86)分,16例患者命名完全错误,定向力、记忆力、计算力、阅读和书写能力亦有损害,但与命名比较相对较好.CDT临摹(4.61±0.85)分,14例完全正常.ADL (29.72±8.75)分,病程5年的患者日常生活能力全面下降.NPI(8.00±7.22)分,14例患者出现异常.FTLD-CDR显示所有患者的语言障碍得分最高.头MRI检查显示多数患者以左侧颞叶萎缩为主,但有1例患者右侧颞叶萎缩重于左侧.早期萎缩局限于左侧颞极,随病情进展,累及右侧颞极、左侧额叶和顶叶皮质.结论 SD多为老年前期发病,但1/3的患者发生于老年期.语义记忆障碍最突出,行为和人格异常亦常见.临床上存在较高的误诊率和漏诊率,最常被误诊为AD.在病程早期,患者的视空间及其他能力相对保留,病程5年的患者功能全面衰退.头颅MRI可反映疾病的进展过程和临床特征,但个别患者以右侧颞叶萎缩为主.     

额颞叶痴呆的诊断研究进展

额颞叶痴呆(FTD)是额颞叶萎缩相关的一组以认知损伤、行为异常、语言障碍为主要表现同时可合并其他运动障碍的临床综合征。以临床表现分为3型:行为异常型、原发性进行性失语型以及合并运动障碍综合征型。在遗传病理学研究发现FTD发生主要微管相关蛋白tau基因等6种基因的变异有关,而与之相关的tau蛋白等病理相关蛋白构成了FTD病理谱。神经影像学和生物标记物作为目前研究的热点,为FTD的诊断提供了新的思路。通过血浆和脑脊液中基因及相关病理蛋白标记物研究,为未来FTD诊断开辟新的方向。     

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

Frontotemporal dementia (FTD) is the second most common young-onset dementia and is clinically characterised by progressive behavioural change, executive dysfunction and language difficulties. Three clinical syndromes, behavioural variant FTD, semantic dementia and progressive non-fluent aphasia, form part of a clinicopathological spectrum named frontotemporal lobar degeneration (FTLD). The classical neuropsychological phenotype of FTD has been enriched by tests exploring Theory of Mind, social cognition and emotional processing. Imaging studies have detailed the patterns of atrophy associated with different clinical and pathological subtypes. These patterns offer some diagnostic utility, while measures of progression of atrophy may be of use in future trials. 30-50% of FTD is familial, and mutations in two genes, microtubule associated protein tau and Progranulin (GRN), account for about half of these cases. Rare defects in VCP, CHMP2B, TARDP and FUS genes have been found in a small number of families. Linkage to chromosome 9p13.2-21.3 has been established in familial FTD with motor neuron disease, although the causative gene is yet to be identified. Recent developments in the immunohistochemistry of FTLD, and also in amyotrophic lateral sclerosis (ALS), have led to a new pathological nomenclature. The two major groups are those with tau-positive inclusions (FTLD-tau) and those with ubiquitin-positive and TAR DNA-binding protein of 43 kDa (TDP-43) positive inclusions (FTLD-TDP). Recently, a new protein involved in familial ALS, fused in sarcoma (FUS), has been found in FTLD patients with ubiquitin-positive and TDP-43-negative inclusions. In this review, the authors discuss recent clinical, neuropsychological, imaging, genetic and pathological developments that have changed our understanding of FTD, its classification and criteria. The potential to establish an early diagnosis, predict underlying pathology during life and quantify disease progression will all be required for disease-specific therapeutic trials in the future.     

额叶型痴呆的临床和病理

目的　证实一种少见的伴有痴呆的神经系统变性疾病———额叶型痴呆。方法　对 1例因并发肺炎而死亡的 46岁进行性痴呆患者 ,进行脑部剖检 ,经系列的组织染色及PrP ,tau蛋白等免疫组织化学染色。结果　该例患者有 :(1)进行性神经、精神症状 ,病程为 3年 ;(2 )头部CT示双侧额叶灰质萎缩 ,脑电图呈阵发性全导联 ,长间歇期 (>2s)的高波幅慢波 ;(3)脑重 10 5 0g ,脑萎缩仅限于额叶 ,未累及颞叶 ;(4)额叶灰质从第二层开始神经细胞大量脱失伴明显胶质增生 ,而锥体细胞相对完好。Beilschowsky及Gallyas染色无异常发现 ;(5 )神经细胞及胶质细胞内未发现任何包涵体 ;(6 )PrP、tau蛋白免疫组织化学染色呈阴性反应。结论　该病例为典型额叶型痴呆 ,今后在分析伴有痴呆的神经系统变性疾病时 ,应想到此类型痴呆。     

经影像学支持的阿尔茨海默病与血管性痴呆的临床比较研究

目的研究阿尔茨海默病(AD)和血管性痴呆(VD)的临床特征,寻找鉴别诊断的有效方法.方法共125例AD患者和97例VD患者,包括北京协和医院的门诊痴呆患者171例和流行病学调查中受访的痴呆患者51例,AD患者均有头颅MRI资料,VD患者都有头颅MRI或CT资料.按照美国精神医学会的<精神障碍诊断和统计手册>第四版(DSM-Ⅳ)标准诊断痴呆,很可能AD采用美国神经病学、语言障碍和卒中-老年性痴呆和相关疾病学会(NINCDS-ADRDA)标准,很可能VD采用美国国立神经病与卒中研究所/瑞士神经科学国际协会(NINDS-AIREN)标准.比较AD和VD患者在认知功能、行为症状、日常活动能力和影像学方面的差异,采用Logistic二元多重回归模型确定鉴别诊断的有效指标.结果不同痴呆阶段的AD和VD患者具有不同的临床特征,两者间的鉴别指标随痴呆进展而变化轻度AD患者学习能力较VD患者减退明显(Fuld物体记忆储存分分别为6.3±2.4、8.0±1.7,P=0.040),鉴别中度AD和VD患者的有效指标是注意力(数字广度测验倒背分分别为2.2±1.4、1.0±1.2,P=0.004)和综合语言能力(简易智能状态检查法综合语言能力分分别为6.3±1.1、5.3±1.7,P=0.001),重度AD患者以短时记忆减退(Fuld物体记忆总分分别为3.1±1.7、6.0±4.3,P=0.046)为著.轻中度AD患者在理财和打电话上逊于VD患者,VD患者则在与肢体活动有关的日常活动中表现退步(均P<0.05).重度VD患者的日常生活活动能力总分明显低于同阶段AD患者(49.3±14.8,62.4±14.9,P=0.032).重复收敛行为是鉴别中重度AD和VD患者的有效指标(均P<0.05).结论 AD和VD具有不同的临床特征.两者的差别是由各自的病变性质、部位和病理生理机制所决定的.     

Two cases of frontotemporal dementia

Frontotemporal dementias represent the third most common cause of primer degenerative dementias next to Alzheimer's disease and Lewy body disease. Frontotemporal dementia constitutes 10-20% of all praesenilis dementias. The authors present the results of the 10 years' clinical, neuropsychological, neuropathological examinations and brain imaging with the examples of two cases. At the early stage of frontotemporal dementia changes of personality and social conduct are prominent, whereas cognitive functions are relatively well preserved. The usual dementia tests are not sufficiently sensitive to disclose non-cognitive symptoms. Clinical diagnosis as well as differentiation from functional psychiatric disorders can be difficult. Brain imaging present the frontal and the anterior temporal lobe atrophy and selective hypometabolism in these areas. The typical onset is between at the age 50 and 65 years. It is very rare under the age of 30. The symptoms of two patients started at the age of 42-44. The first diagnosis was post traumatic stress disorder. Later stereotyped behaviour, mental rigidity, hyperorality, irritability, progressive reduction of speech and vegetative dysfunctions appeared. Besides the affecting of the irresistibly worsening symptoms and the medical care requiring strength and inventiveness, the authentic informing of the relatives is also a challenge. The caregivers have special relationship with the patients and their relatives.     

Relationship between occupation attributes and brain metabolism in frontotemporal dementia

Occupation has been associated with cognitive reserve in healthy aging and Alzheimer's disease. Here we assess the relationship between cerebral metabolic deficits in behavioral variant frontotemporal dementia (bvFTD) and occupation characteristics. Using factor analysis, we derived verbal, physical and visuospatial occupation scores from the US Department of Labor, Occupational Information Network and related these scores to regional cerebral metabolic rate of glucose utilization in 31 patients diagnosed with behavioral variant bvFTD, controlling for cognitive status (CERAD neuropsychological assessment battery), gender and education. Regression analyses showed a marked inverse association between glucose metabolism and (a) verbal occupation scores in left prefrontal cortex and, (b) physical occupation characteristics in right supplementary motor area. We concluded that, consistent with the cognitive reserve hypothesis, lifelong occupation characteristics are related to focal cerebral metabolic deficits in bvFTD. Specific occupation demands spanning decades may strengthen cognitive resistance to pathology.     

Semantic dementia: clinical, radiological and pathological perspectives

Semantic dementia (SD) is a recently described clinical syndrome characterised by an acquired progressive inability to name or comprehend common concepts, with little or no distortion of the phonological and syntactic aspects of language, and relative sparing of other aspects of cognition, such as episodic memory, nonverbal problem-solving, and perceptual and visuo-spatial skills. The cognitive locus of this syndrome appears to lie in the permanent store of long-term memory representing general world knowledge-semantic memory. The anatomical distribution of atrophy is less well-defined, and the contribution of various imaging modalities is discussed in the context of a body of 45 published and unpublished cases. We conclude that involvement of the left infero-lateral temporal cortex is the critical area in the genesis of SD. SD probably always represents a non-Alzheimer neurodegenerative process; a variety of pathological lesions may be present, and possible causes, together with debates about their correct classification, are discussed. Received: 1 March 1999, Received in revised form: 20 November 1999, Accepted: 29 November 1999     

Tau isoform expression in frontotemporal dementia without tau deposition

In many cases of sporadic frontotemporal dementia (FTD) and in FTD caused by tau mutations (FTDP-17) there is disruption of the normal splicing of tau leading to the aberrant expression of tau isoforms and neurodegeneration. This suggests a central role for tau in the pathogenesis of FTD. However, more than half the cases of sporadic FTD show no tau deposition. We question whether altered expression is also involved in the pathogenesis of tau-negative FTD. Real-time polymerase chain reaction was used to investigate tau isoform expression in tau-negative FTD and age-matched controls. There were no differences in total tau mRNA or 4R versus 3R isoform expression. Our study suggests that perturbed tau mRNA expression is unlikely to be involved in the pathogenesis of tau-negative FTD.