scholarly journals Investigação de Etiologia Genética nas Demências Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João

2016 ◽  
Vol 29 (10) ◽  
pp. 675
Author(s):  
João Massano ◽  
Miguel Leão ◽  
Carolina Garrett ◽  
On behalf of Grupo de Neurogenética do Centro Hospitalar São João
Keyword(s):  
Alzheimer Disease ◽  
Frontotemporal Dementia ◽  
Scientific Evidence ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Genetic Etiology ◽  
International Consensus ◽  
Group A ◽  
Neurogenetic Disorders ◽  
Neurodegenerative Dementias

In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic. Alzheimerdisease may be caused by mutations in PSEN1, PSEN2 and APP. APOE genotyping is not recommended for the diagnostic or genetic counseling purposes in Alzheimer disease. Frontotemporal dementia may be caused by mutations in several genes such as c9orf72, PGRN, MAPT, TBK1, VCP, SQSTM1, and UBQLN2. This paper pragmatically approaches the process of genetic diagnosis in Alzheimer disease and frontotemporal dementia, with specific recommendations for both disorders.

scholarly journals Estudo Genético nas Distonias Primárias: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João

2017 ◽  
Vol 30 (4) ◽  
pp. 340
Author(s):  
Ana Monteiro ◽  
João Massano ◽  
Miguel Leão ◽  
Carolina Garrett ◽  
Em nome do Grupo de Neurogenética do Centro Hospitalar São João
Keyword(s):  
Clinical Practice ◽  
Age Of Onset ◽  
Scientific Evidence ◽  
Low Frequency ◽  
Gene Mutations ◽  
Molecular Testing ◽  
International Consensus ◽  
Group A ◽  
Neurogenetic Disorders ◽  
The Cost

The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

scholarly journals Investigação de Etiologia Genética nas Ataxias Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João, Portugal

2017 ◽  
Vol 30 (6) ◽  
pp. 502
Author(s):  
Tiago Gomes ◽  
Joana Guimaraes ◽  
Miguel Leão ◽  
Em nome do Grupo de Neurogenética do Centro Hospitalar São João
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Evidence ◽  
Genetic Diagnosis ◽  
Clinical History ◽  
International Consensus ◽  
Neurogenetic Disorders ◽  
Rational Plan ◽  
Rational Process

In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.

scholarly journals Behavioural-variant frontotemporal dementia: An update

2013 ◽  
Vol 7 (1) ◽  
pp. 10-18 ◽  
Author(s):  
Olivier Piguet ◽  
John R. Hodges
Keyword(s):  
Decision Making ◽  
Social Cognition ◽  
Frontotemporal Dementia ◽  
Neuropsychological Testing ◽  
Gene Mutations ◽  
Chromosome 9 ◽  
Diagnostic Process ◽  
International Consensus ◽  
Disease Modifying Drugs ◽  
Hexanucleotide Repeat

ABSTRACT Behavioural-variant frontotemporal dementia (bvFTD) is characterised by insidious changes in personality and interpersonal conduct that reflect progressive disintegration of the neural circuits involved in social cognition, emotion regulation, motivation and decision making. The underlying pathology is heterogeneous and classified according to the presence of intraneuronal inclusions of tau, TDP-43 or occasionally FUS. Biomarkers to detect these histopathological changes in life are increasingly important with the development of disease-modifying drugs. Gene mutations have been found which collectively account for around 10-20% of cases including a novel hexanucleotide repeat on chromosome 9 (C9orf72). The recently reviewed International Consensus Criteria for bvFTD propose three levels of diagnostic certainly: possible, probable and definite. Detailed history taking from family members to elicit behavioural features underpins the diagnostic process with support from neuropsychological testing designed to detect impairment in decision-making, emotion processing and social cognition. Brain imaging is important for increasing the level of diagnosis certainty. Carer education and support remain of paramount importance.

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Neurogenetics ◽  
2000 ◽  
Vol 2 (4) ◽  
pp. 0193-0205 ◽  
Author(s):  
M. G. Spillantini ◽  
J.C. Van Swieten ◽  
M. Goedert
Keyword(s):  
Frontotemporal Dementia ◽  
Gene Mutations ◽  
Chromosome 17

O4-06-08 Behavioral disturbance in frontotemporal dementia and frontal variant Alzheimer disease

2004 ◽  
Vol 25 ◽  
pp. S87
Author(s):  
Julene K. Johnson ◽  
Anne Lipton ◽  
Stephen Allison ◽  
Kristin Martin-Cook ◽  
Jennifer Merrilees ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Frontotemporal Dementia ◽  
Behavioral Disturbance

The Impact of Dementia Severity on Caregiver Burden in Frontotemporal Dementia and Alzheimer Disease

2013 ◽  
Vol 27 (1) ◽  
pp. 68-73 ◽  
Author(s):  
Eneida Mioshi ◽  
David Foxe ◽  
Felicity Leslie ◽  
Sharon Savage ◽  
Sharpley Hsieh ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Frontotemporal Dementia ◽  
Caregiver Burden ◽  
Dementia Severity ◽  
The Impact

Apraxia screening predicts Alzheimer pathology in frontotemporal dementia

2018 ◽  
Vol 90 (5) ◽  
pp. 562-569 ◽  
Author(s):  
Matthias Pawlowski ◽  
Viktoria Joksch ◽  
Heinz Wiendl ◽  
Sven G Meuth ◽  
Thomas Duning ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Presentation ◽  
Neuropsychological Testing ◽  
High Sensitivity ◽  
Clinical Syndrome ◽  
Test Results ◽  
Discriminative Power ◽  
Bedside Test ◽  
Neurodegenerative Dementias ◽  
Alzheimer Pathology

ObjectivesFrontotemporal dementia (FTD) is a heterogeneous clinical syndrome linked to diverse types of underlying neuropathology. Diagnosis is mainly based on clinical presentation and accurate prediction of underlying neuropathology remains difficult.MethodsWe present a large cohort of patients with FTD spectrum diseases (n=84). All patients were thoroughly characterised by cerebrospinal fluid (CSF) Alzheimer’s disease (AD) biomarkers, neuroimaging, neuropsychological testing and standardised apraxia screening.ResultsA potential AD pathology was found in 43% of patients with FTD. CSF AD biomarker levels positively correlated with AD-typical apraxia scores in patients with FTD. The discriminative power of apraxia test results indicative of AD pathology was high (sensitivity: 90%, specificity: 66%).ConclusionsApraxia is common in neurodegenerative dementias but under-represented in clinical workup and diagnostic criteria. Standardised apraxia screening may serve as bedside test to objectify an AD-typical apraxia profile as an early and robust sign of AD pathology in patients with FTD.

scholarly journals Disease Progression in Frontotemporal Dementia and Alzheimer Disease: The Contribution of Staging Scales

2020 ◽  
pp. 089198872094423
Author(s):  
Thaís Bento Lima-Silva ◽  
Eneida Mioshi ◽  
Valéria Santoro Bahia ◽  
Mário Amore Cecchini ◽  
Luciana Cassimiro ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Disease Progression ◽  
Frontotemporal Dementia ◽  
Rating Scale ◽  
Severe Disease ◽  
Primary Progressive Aphasia ◽  
Behavioral Changes ◽  
Clinical Dementia Rating ◽  
Dementia Rating Scale ◽  
Disease Stages

Introduction: There is a shortage of validated instruments to estimate disease progression in frontotemporal dementia (FTD). Objectives: To evaluate the ability of the FTD Rating Scale (FTD-FRS) to detect functional and behavioral changes in patients diagnosed with the behavioral variant of FTD (bvFTD), primary progressive aphasia (PPA), and Alzheimer disease (AD) after 12 months of the initial evaluation, compared to the Clinical Dementia Rating scale−frontotemporal lobar degeneration (CDR-FTLD) and the original Clinical Dementia Rating scale (CDR). Methods: The sample consisted of 70 individuals, aged 40+ years, with at least 2 years of schooling, 31 with the diagnosis of bvFTD, 12 with PPA (8 with semantic variant and 4 with non-fluent variant), and 27 with AD. The FTD-FRS, the CDR, and the 2 additional CDR-FTLD items were completed by a clinician, based on the information provided by the caregiver with frequent contact with the patient. The Addenbrooke Cognitive Examination-Revised was completed by patients. After 12 months, the same protocol was applied. Results: The FTD-FRS, CDR-FTLD, and CDR detected significant decline after 12 months in the 3 clinical groups (exception: FTD-FRS for PPA). The CDR was less sensitive to severe disease stages. Conclusions: The FTD-FRS and the CDR-FTLD are especially useful tools for dementia staging in AD and in the FTD spectrum.

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