Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain.

Abstract:

BACKGROUND/AIMS:We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain. METHODS:The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects. To investigate the origin of the P301L mutation in these families, 20 single nucleotide polymorphisms (SNPs) in the MAPT gene were analyzed. RESULTS:The mean age at disease onset was 51 years and the mean disease duration was 7 years. The most common initial symptoms were behavioral changes (54%), followed by language disturbances (31%) and memory loss (15%). 46% developed parkinsonism. Neuropathology showed an extensive neuronal and glial 4-repeat (4R) tauopathy with "mini-Pick"-like bodies in the dentate gyrus as the characteristic underlying pathology in all cases. In 1 subject, additional 4R globular glial inclusions were observed. All the mutation carriers showed the same haplotype for the SNPs analyzed, suggesting a common ancestor. CONCLUSION:These findings suggest a relative homogeneous clinicopathological phenotype in P301L MAPT mutation carriers in our series. This phenotype might help in the differential diagnosis from other tauopathies and be a morphological hint for genetic testing. The haplotype analysis results suggest a founder effect of the P301L mutation in this area.

authors

Borrego-Écija S,Morgado J,Palencia-Madrid L,Grau-Rivera O,Reñé R,Hernández I,Almenar C,Balasa M,Antonell A,Molinuevo JL,Lladó A,Martínez de Pancorbo M,Gelpi E,Sánchez-Valle R

doi

10.1159/000480077

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

213-221

issue

3-4

eissn

1420-8008

issn

1421-9824

pii

000480077

journal_volume

44

pub_type

杂志文章
  • Speech in Alzheimer's disease: can temporal and acoustic parameters discriminate dementia?

    abstract:AIMS:The study explores how speech measures may be linked to language profiles in participants with Alzheimer's disease (AD) and how these profiles could distinguish AD from changes associated with normal aging. METHODS:We analysed simple sentences spoken by older adults with and without AD. Spectrographic analysis of...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000356726

    authors: Meilán JJ,Martínez-Sánchez F,Carro J,López DE,Millian-Morell L,Arana JM

    更新日期:2014-01-01 00:00:00

  • Staging dementia using proxy-reported activities of daily living.

    abstract:BACKGROUND/AIM:It has been questioned whether cognitive and behavioral scales sufficiently address the impact of dementia on the everyday life of patients. Therefore, other instruments are used, such as scales of activities of daily living (ADL). Our goal was to analyze variables influencing the appraisal of ADL. METH...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000331420

    authors: Jonas C,Schiffczyk C,Lahmeyer C,Mueller F,Riepe MW

    更新日期:2011-01-01 00:00:00

  • No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease.

    abstract::The identification of the epsilon4 variant of apolipoprotein E as a genetic risk factor for late-onset Alzheimer's disease (AD) suggests that cholesterol may play a direct role in the pathogenesis of the disease. Recent studies have suggested that the ATP-binding cassette (ABC) protein G5 (ABCG5) may be involved in th...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000086473

    authors: Ohkubo T,Shibata N,Ohnuma T,Higashi S,Usui C,Ueki A,Nagao M,Arai H

    更新日期:2005-01-01 00:00:00

  • White matter lesion subtypes and cognitive deficits in patients with memory impairment.

    abstract:AIM:To analyze the relationship between periventricular (PV) and subcortical (SC) white matter lesions (WML) and cognitive function in patients with memory impairment. METHODS:In total, 253 patients with Global Deterioration Scale scores >or=3 who had been referred to a university-based memory unit due to memory compl...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000165355

    authors: Stenset V,Hofoss D,Berstad AE,Negaard A,Gjerstad L,Fladby T

    更新日期:2008-01-01 00:00:00

  • Postoperative Treatment of Pain after Hip Fracture in Elderly Patients with Dementia.

    abstract:BACKGROUND/AIMS:Prior studies have shown that patients with dementia are at risk of receiving insufficient treatment for pain after a hip fracture. We therefore hypothesized that elderly hip fracture patients with dementia received less postoperative pain treatment than those without dementia. METHOD:All patients (age...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000444704

    authors: Jensen-Dahm C,Palm H,Gasse C,Dahl JB,Waldemar G

    更新日期:2016-01-01 00:00:00

  • Apolipoprotein E genotype modifies the association between midlife lung function and cognitive function in old age.

    abstract:BACKGROUND/AIMS:Because poor lung function may be a risk factor for cognitive decline, we aimed to test the association of respiratory function with cognitive function and dementia later in life, as well as potential effect modification by APOE epsilon4 carrier status. METHODS:In a prospective population-based cohort ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000255600

    authors: Giltay EJ,Nissinen A,Giampaoli S,Kromhout D

    更新日期:2009-01-01 00:00:00

  • Rivastigmine in the treatment of dementia associated with Parkinson's disease: effects on activities of daily living.

    abstract:AIMS:To investigate the effects of rivastigmine capsule 3-12 mg/day over 24 weeks on activities of daily living (ADLs) in patients with dementia associated with Parkinson's disease (PDD). METHODS:Post hocanalysis of a prospective, multicenter, randomized, double-blind, placebo-controlled trial in patients with PDD (>o...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1159/000305100

    authors: Olin JT,Aarsland D,Meng X

    更新日期:2010-01-01 00:00:00

  • Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.

    abstract:BACKGROUND:Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. METHODS:We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000366272

    authors: Shi Z,Wang Y,Liu S,Liu M,Liu S,Zhou Y,Wang J,Cai L,Huo YR,Gao S,Ji Y

    更新日期:2015-01-01 00:00:00

  • Association between prescription of conventional or atypical antipsychotic drugs and mortality in older persons with Alzheimer's disease.

    abstract:BACKGROUND/AIMS:To evaluate whether dementia patients prescribed antipsychotic drugs have a higher mortality compared to unexposed patients, and to investigate whether there are differences in mortality associated with exposure to conventional versus atypical antipsychotic drugs. METHODS:Retrospective population cohor...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000326213

    authors: Musicco M,Palmer K,Russo A,Caltagirone C,Adorni F,Pettenati C,Bisanti L

    更新日期:2011-01-01 00:00:00

  • Orbitofrontal dysfunction discriminates behavioral variant frontotemporal dementia from Alzheimer's disease.

    abstract:BACKGROUND:Behavioral variant frontotemporal dementia (bvFTD) patients show prefrontal cortex dysfunction and atrophy. METHODS:We investigated whether executive function in conjunction with prefrontal cortex atrophy discriminates bvFTD and Alzheimer's disease (AD) patients efficiently at presentation. RESULTS:AD and ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000321670

    authors: Hornberger M,Savage S,Hsieh S,Mioshi E,Piguet O,Hodges JR

    更新日期:2010-01-01 00:00:00

  • Lack of genetic associations of alpha-1-antichymotrypsin polymorphism with alzheimer-type neuropathological changes or sporadic Alzheimer's disease.

    abstract::To elucidate the influence of the alpha1-antichymotrypsin (ACT) polymorphism on Alzheimer-type neuropathological changes and the development of sporadic Alzheimer's disease (AD), we studied the relationship between the ACT polymorphism and the severity of Alzheimer-type neuropathological changes in the brains from AD ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000017123

    authors: Sodeyama N,Yamada M,Itoh Y,Suematsu N,Matsushita M,Otomo E,Mizusawa H

    更新日期:1999-05-01 00:00:00

  • Beta amyloid suppresses the expression of the vitamin d receptor gene and induces the expression of the vitamin d catabolic enzyme gene in hippocampal neurons.

    abstract:BACKGROUND/AIMS:The beta amyloid aggregations present in Alzheimer's disease affect neurons through various toxic alterations. The aim of this study was to determine the expression of the vitamin D receptor (VDR), 25-hydroxyvitamin D3 24-hydroxylase (an accelerator of vitamin D catabolism), and the L-type voltage-sensi...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000350319

    authors: Dursun E,Gezen-Ak D,Yilmazer S

    更新日期:2013-01-01 00:00:00

  • Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs.

    abstract:BACKGROUND:Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions. METHODS:We analyzed ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000454802

    authors: Llorens F,Karch A,Golanska E,Schmitz M,Lange P,Sikorska B,Liberski PP,Zerr I

    更新日期:2017-01-01 00:00:00

  • White Matter Changes and Cognitive Decline in a Ten-Year Follow-Up Period: A Pilot Study on a Single-Center Cohort from the Leukoaraiosis and Disability Study.

    abstract:AIMS:To describe the contribution of white matter lesions to the long-term neuropsychological profiles of different groups of clinical diagnoses, and to identify neuropsychological predictors of cognitive impairment in a 10-year follow-up. METHODS:The Lisbon subcohort of the Leukoaraiosis and Disability (LADIS) study ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000447121

    authors: Madureira S,Verdelho A,Moleiro C,Santos C,Scheltens P,Gouw A,Ferro J

    更新日期:2016-01-01 00:00:00

  • Neuropsychiatric symptoms in primary progressive aphasia and apraxia of speech.

    abstract:AIM:To conduct a prospective analysis of the neuropsychiatric symptoms (NPS) across the three categories of primary progressive aphasia (PPA) and progressive apraxia of speech (PAOS), compare the prevalence and nature of the symptoms, and look at which symptoms could be helpful to better differentiate these PPA and PAO...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000369062

    authors: Singh TD,Duffy JR,Strand EA,Machulda MM,Whitwell JL,Josephs KA

    更新日期:2015-01-01 00:00:00

  • Usefulness of Discriminability and Response Bias Indices for the Evaluation of Recognition Memory in Mild Cognitive Impairment and Alzheimer Disease.

    abstract:BACKGROUND:Most studies examining episodic memory in Alzheimer disease (AD) have focused on patients' impaired ability to remember information. This approach provides only a partial picture of memory deficits since other factors involved are not considered. OBJECTIVE:To evaluate the recognition memory performance by u...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000452255

    authors: Russo MJ,Cohen G,Campos J,Martin ME,Clarens MF,Sabe L,Barcelo E,Allegri RF

    更新日期:2017-01-01 00:00:00

  • A review of transcranial magnetic stimulation in the in vivo functional evaluation of central cholinergic circuits in dementia.

    abstract::Central cholinergic circuits of human brain can be tested non-invasively by coupling electrical peripheral stimulation with transcranial magnetic stimulation (TMS) of the motor cortex. The short-latency afferent inhibition (SAI) is reduced in cholinergic forms of dementia, such as Alzheimer disease (AD) and dementia w...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章,评审

    doi:10.1159/000330016

    authors: Nardone R,Golaszewski S,Ladurner G,Tezzon F,Trinka E

    更新日期:2011-01-01 00:00:00

  • Fat intake at midlife and risk of dementia and Alzheimer's disease: a population-based study.

    abstract:BACKGROUND:Lifestyle and vascular factors have been linked to dementia and Alzheimer's disease (AD), but the role of dietary fats in the development of dementia is less clear. METHODS:Participants were derived from random, population-based samples initially studied in midlife (1972, 1977, 1982, or 1987). Fat intake fr...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000093478

    authors: Laitinen MH,Ngandu T,Rovio S,Helkala EL,Uusitalo U,Viitanen M,Nissinen A,Tuomilehto J,Soininen H,Kivipelto M

    更新日期:2006-01-01 00:00:00

  • Emotional and psychological distress of persons involved in the care of patients with Alzheimer disease predicts falls and fractures in their care recipients.

    abstract:BACKGROUND/AIMS:Elderly patients with dementia have a higher risk of falls and fractures as compared to cognitively intact elderly subjects. To investigate whether psychological distress of the caregiver might predispose older persons with Alzheimer disease (AD) to falls and fractures, we performed a prospective cohort...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000288774

    authors: Maggio D,Ercolani S,Andreani S,Ruggiero C,Mariani E,Mangialasche F,Palmari N,Mecocci P

    更新日期:2010-01-01 00:00:00

  • Hypovitaminosis D and executive dysfunction in older adults with memory complaint: a memory clinic-based study.

    abstract:BACKGROUND:Hypovitaminosis D is associated with executive dysfunction as a whole. The purpose of this cross-sectional study was to determine whether lower vitamin D levels were associated with mental flexibility, information updating, or cognitive and motor inhibition among older adults. METHODS:One hundred Caucasian ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000356483

    authors: Annweiler C,Maby E,Meyerber M,Beauchet O

    更新日期:2014-01-01 00:00:00

  • Comparative Diagnostic Accuracy of the ACE-III, MIS, MMSE, MoCA, and RUDAS for Screening of Alzheimer Disease.

    abstract:BACKGROUND:Our aim was to evaluate and compare the diagnostic properties of 5 screening tests for the diagnosis of mild Alzheimer disease (AD). METHODS:We conducted a prospective and cross-sectional study of 92 patients with mild AD and of 68 healthy controls from our Department of Neurology. The diagnostic properties...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000469658

    authors: Matías-Guiu JA,Valles-Salgado M,Rognoni T,Hamre-Gil F,Moreno-Ramos T,Matías-Guiu J

    更新日期:2017-01-01 00:00:00

  • Molecular genetic characterisation of frontotemporal dementia on chromosome 3.

    abstract::We have previously localized a locus causing familial nonspecific dementia to the centromeric region of chromosome 3 in a pedigree from the Jutland area of Denmark. This pedigree shows anticipation. Here we present further analysis of these anticipation data which are suggestive of trinucleotide repeat expansion invol...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000051222

    authors: Ashworth A,Lloyd S,Brown J,Gydesen S,Sorensen SA,Brun A,Englund E,Humphreys C,Housman D,Badura M,Stanton V Jr,Taylor K,Cameron J,Munroe D,Johansson J,Rossor M,Fisher EM,Collinge J

    更新日期:1999-01-01 00:00:00

  • Cognitive reserve: a SPECT study of 132 Alzheimer's disease patients with an education range of 0-19 years.

    abstract::This study examines the associations between education, cerebral perfusion, and cognitive test performance among 132 patients with Alzheimer's disease. The participants had had between 0 and 19 years of formal schooling, and had either mild or moderate dementia according to the Clinical Dementia Rating Scale. Cerebral...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000085068

    authors: Liao YC,Liu RS,Teng EL,Lee YC,Wang PN,Lin KN,Chung CP,Liu HC

    更新日期:2005-01-01 00:00:00

  • Fast cognitive decline at the time of dementia diagnosis: a major prognostic factor for survival in the community.

    abstract:BACKGROUND/AIMS:Current findings suggest the existence of a category of fast cognitive decliners with a poorer prognosis but better treatment response. Our study aimed at confirming the concept of fast decliners at the time of Alzheimer's disease (AD) diagnosis which best predicts mortality, in an unselected sample. M...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000102017

    authors: Carcaillon L,Pérès K,Péré JJ,Helmer C,Orgogozo JM,Dartigues JF

    更新日期:2007-01-01 00:00:00

  • Progression of dementia associated with lacunar infarctions.

    abstract:BACKGROUND:Lacunar stroke (L) is the most common stroke subtype associated with vascular dementia (VaD-L). OBJECTIVE:To evaluate the cognitive and behavioral course in patients with probable VaD-L. METHODS:We longitudinally measured rates of change on MMSE, digit span, logical memory, Controlled Oral Word Association...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000070678

    authors: Aharon-Peretz J,Daskovski E,Mashiach T,Kliot D,Tomer R

    更新日期:2003-01-01 00:00:00

  • Plasma homocysteine and cognition in elderly patients with dementia or other psychogeriatric diseases.

    abstract:BACKGROUND:Total plasma homocysteine (tHcy) concentration is elevated in elderly patients with mental illness, and patients with vascular disease have higher plasma tHcy concentrations than patients without vascular disease. Increasing evidence indicates that vascular risk factors play a role in the development of cogn...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000319535

    authors: Nilsson K,Gustafson L,Hultberg B

    更新日期:2010-01-01 00:00:00

  • NADPH-diaphorase-containing neurons in cortex, subcortical white matter and neostriatum are selectively spared in Alzheimer's disease.

    abstract::To investigate the involvement of NADPH-diaphorase (NADPH-d)-containing neurons in Alzheimer's disease (AD), NADPH-d enzyme histochemistry in vibratome sections was applied to the superior frontal and superior temporal cortex and the neostriatum in 5 AD and 6 aged control brains. Overall there was a neuronal loss and ...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000017190

    authors: Tao Z,Van Gool D,Lammens M,Dom R

    更新日期:1999-11-01 00:00:00

  • Report about four novel mutations in the prion protein gene.

    abstract:BACKGROUND/AIMS:Since detection of the prion protein gene (PRNP) more than 30 mutations have been discovered. Some have only been found in single case reports without known intrafamilial accumulation or neuropathological proof so that the causal connection between mutation and disease could not be proved. Those patient...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000345991

    authors: Schelzke G,Stoeck K,Eigenbrod S,Grasbon-Frodl E,Raddatz LM,Ponto C,Kretzschmar HA,Zerr I

    更新日期:2013-01-01 00:00:00

  • Neuropsychiatric correlates of cerebrospinal fluid biomarkers in Alzheimer's disease.

    abstract:BACKGROUND:The aim of this study was to explore the relationship between cerebrospinal fluid biomarkers and neuropsychiatric symptoms in people with Alzheimer's disease. Psychosis, agitation, apathy and depression were assessed using standardised measures in 32 patients with mild Alzheimer's disease. METHODS:The level...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000137671

    authors: Skogseth R,Mulugeta E,Jones E,Ballard C,Rongve A,Nore S,Alves G,Aarsland D

    更新日期:2008-01-01 00:00:00

  • The Montreal Cognitive Assessment and the mini-mental state examination as screening instruments for cognitive impairment: item analyses and threshold scores.

    abstract:AIMS:To perform an item analysis of the Montreal Cognitive Assessment (MoCA) versus the Mini-Mental State Examination (MMSE) in the prediction of cognitive impairment, and to examine the characteristics of different MoCA threshold scores. METHODS:135 subjects enrolled in a longitudinal clinicopathologic study were adm...

    journal_title:Dementia and geriatric cognitive disorders

    pub_type: 杂志文章

    doi:10.1159/000323867

    authors: Damian AM,Jacobson SA,Hentz JG,Belden CM,Shill HA,Sabbagh MN,Caviness JN,Adler CH

    更新日期:2011-01-01 00:00:00