Master of Science / Department of Clinical Sciences / Barret J. Bulmer / Degenerative valve disease is the most common cardiac affliction facing our canine population. To date, canine research has focused on characterizing the disease itself and the histopathological features. Because of the ability to routinely repair or replace diseased valves in human medicine, research focus in humans has been on perfecting these techniques rather than elucidating etiology. The recent interest in valvular interstitial cells has been primarily due to their capacity to degrade collagen with the knowledge that disorganized collagen is a hallmark characteristic of degenerative valve disease. In this project, an easily reproducible cell culture protocol for canine valvular interstitial cells was developed. These cells were phenotyped by utilization of RT-PCR and immunocytochemistry. The use of these cells in a research project looking at response to endothelin exposure with and without protection of vitamin E is demonstrated as an example of the unlimited possibilities for these cells to elucidate not only the etiology of the disease process but also the response to therapy.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disorder characterized by loss of upper and lower motor neurons. TDP-43 was identified as a major protein component of the characteristic neuronal inclusions and it has been detected in 90% of ALS cases. Furthermore, pathogenic mutations in the gene encoding TDP-43, TARDBP, were found in both sporadic and familial ALS cases. The aim of this study is to investigate the molecular mechanisms of cellular dysfunction and ultimately death caused by TDP-43 mutations in human cells using established cell lines and human motor neurons derived from induced pluripotent stem cells (iPSCs). We generated a novel in vitro cellular model using a fluorescently tagged human genomic TARDBP locus carrying three ALS-specific mutations, A382T, M337V or Y374X. In site specific bacterial artificial chromosome (BAC) human stable cell lines, TDP M337V mislocalized to the cytoplasm more frequently than wild-type TDP-43 (TDP Ypet) and TDP-A382T, an effect potentiated by oxidative stress. Cytoplasmic mislocalization was significantly higher in TDP M337V cells compared to TDP-Ypet and correlated with cell death. Cells expressing the mislocalized TDP M337V mutant spontaneously developed cytoplasmic punctae, while for TDP-A382T punctae were only revealed after endoplasmic reticulum (ER) stress induced by the calcium-modifying drug thapsigargin (TG). Lowering Ca2+ concentration in the ER of TDP-Ypet cells partially recapitulated the effect of pathogenic mutations by increasing TDP-43 cytoplasmic mislocalization, suggesting Ca²⁺ dysregulation as a potential mediator of pathology. Ca²⁺ signaling from the ER was impaired in cells carrying TDP-43 mutations, with a 50% reduction in the levels of luminal ER Ca²⁺ stores content and delayed Ca²⁺ release induced by carbachol compared to TDP-Ypet cells. The deficits in Ca²⁺ release correlated with upregulation of Bcl-2 and siRNA-mediated knockdown of Bcl-2 restored amplitude of Ca²⁺ oscillations in TDP-M337V cells. These results suggest that TDP-43 pathogenic mutations elicit cytoplasmic mislocalization of TDP-43 through Bcl-2 regulation of ER Ca²⁺ signalling. Preliminary work in iPSC-derived motor neurons transduced with genomic DNA expression TDP-43 vectors using Herpes Simplex Virus type 1 (HSV-1) amplicons showed cytoplasmic redistribution of TDP-43 under high oxidative stress, without significant differences between mutations and wild-type. TDP-43 mutations delivered by HSV-1 amplicons also did not affect survival of iPSC-derived motor neurons. In ALS patient-derived motor neurons carrying C9orf72 expansions, TDP-43 pathology was not detected. However, preliminary data indicate that C9orf72 MNs present ER Ca²⁺ dysregulation with significantly high intracellular Ca²⁺ concentration, which correlates with high protein levels of ER stress markers and low levels of Bcl 2. This work highlights a potentially pathogenic role for TDP-43 mutations in the dysregulation of Ca²⁺ homeostasis and explores the use of iPS technology to investigate the effects of ALS-associated mutations in healthy and patient-derived motor neurons.

Aggregations of fused in sarcoma (FUS), a multifunctional RNA processing protein, define a pathological subtype of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), whilst mutations in the FUS gene are causative for ALS. To model the impact of FUS mutations, expression vectors containing the entire genomic sequence of FUS, up and downstream regions, and native promoter sequences have been generated. The constructs have been tagged with an mCherry fluorescent tag, and three separate pathological mutations (R244C, R521C, and P525L) have been separately inserted. Transgenic mice have been generated using the WT and P525L FUS vectors to provide a highly physiological model of FUS in disease. Within transfected HEK293 cells, insertion of the P525L and R521C FUS mutations leads to relocalisation of FUS from the nucleus to the cytoplasm. R521C and P525L mutant FUS incorporates into cytoplasmic aggregations of untranslated mRNA and RNA binding proteins known as stress granules. The strong relocalisation seen with P525L-FUS is associated with a gain of cytotoxicity. Reversal of this cytoplasmic relocalisation by demethylation of FUS rescues this cytotoxicity, suggesting a toxic gain of cytoplasmic function in the majority of FUS mutations. By contrast, insertion of the R244C mutation leads to neither relocalisation, stress granule association, nor cytotoxicity. Notably the R244C mutation, located away from the nuclear localization domain in which the majority of FUS mutations are found, leads to the presence of smaller FUS fragments in western blot analyses. These fragments appear not to be due to splicing defects in FUS but rather are due to post-translational modifications or aberrant protein cleavage. These data suggest an alternative pathway for FUS toxicity based upon a nuclear loss of function.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is no cure for ALS and no definitive explanation for the onset and rapid progression of motor neuron degeneration. Genetics is a known risk factor for a portion of familial cases. However, the role of genetics in the commoner sporadic form of the disease is poorly understood, although numerous genes have been implicated. The primary aim of this thesis project is to uncover the genetic causes that underlie ALS. To accomplish this goal, the main focus of this thesis is to perform genome-wide association analysis of sporadic ALS using high density SNP arrays. This thesis describes the first and the largest genome-wide association studies of ALS to date. Results demonstrate that there is no single large effect susceptibility variant underlying a large proportion of ALS, such as ApoE in Alzheimer’s disease. However, the genotyping data has been made publically available and the digital nature of this data means that it is a resource that can grow with future studies. Beyond genome-wide association, this thesis describes work using linkage, haplotype and sequence analysis to investigate the genetic overlap between ALS and frontotemporal dementia. Lastly, this thesis presents a novel method for linkage analysis using high throughput SNP arrays. Ultimately, it is hoped that by uncovering the genes that cause ALS, such knowledge will shed light on the pathogenic mechanisms underlying motor neuron degeneration and potentially lead to new rational therapies effective in slowing or even halting disease progression.

No description available.

INTRODUÇÃO: Tem-se afirmado que a via de acesso minimamente invasiva na artroplastia total de joelho (ATJ) por não agredir o músculo quadríceps femoral permite reabilitação mais precoce. A fim de verificar a influência da preservação do aparelho extensor no ato cirúrgico, avaliou-se a força da musculatura extensora e flexora do joelho em pacientes submetidos à ATJ por duas vias de acesso diferentes. MÉTODOS: Este estudo comparou, no período de janeiro de 2005 a julho de 2006, os valores de torque máximo e de trabalho total obtidos por dinamometria isocinética aos seis meses de pós-operatório. Foram avaliados 12 indivíduos submetidos à ATJ por via de acesso minimamente invasiva e 8 indivíduos submetidos à ATJ por via de acesso transquadricipital. RESULTADOS: A análise estatística dos valores de torque máximo e de trabalho total absolutos e corrigidos pelo peso corporal não demonstrou diferença entre os dois grupos. CONCLUSÃO: Não há diferença de força da musculatura extensora e flexora do joelho aos seis meses de cirurgia. / INTRODUCTION: It has been stated that for total knee arthroplasty (TKA), the minimally invasive approach permits earlier rehabilitation because it is not prejudicial for the femoral quadriceps muscle. To verify the influence of preserving the extensor apparatus during surgery, strength of the knee extension and flexion muscles was evaluated in patients submitted to TKA with different approaches. METHODS: The values of maximum torque and total work obtained by isokinetic dynamometry six months after surgery were compared for the MIS group of 12 individuals submitted to TKA by the minimally invasive surgical approach and the Control group of eight others submitted to TKA by the transquadricipital approach, between January 2005 and July 2006. RESULTS: Statistical analysis of the absolute values of maximum torque and total work corrected by body weights did not show a difference between the two groups. CONCLUSION: There was no difference in the extension and flexion strength of the knee muscles six months after surgery.

Resumo: No presente estudo, objetivou-se avaliar a utilização do enxerto alógeno de ligamento patelar (OLO) conservado em glicerina 98% e fixado por meio de parafusos de interferência como substituto do ligamento cruzado cranial (LCCr) em cães. Observou-se a exeqüibilidade e eficácia desta técnica cirúrgica e o comportamento do enxerto e dos parafusos durante o período de 120 dias, baseandose na capacidade dos exames clínicos, radiográficos e artroscópicos, em detectar o possível início e a progressão de alterações degenerativas secundárias na articulação do joelho. Para tanto foram utilizados oito animais da espécie canina pesando entre 17,2 e 26,4Kg. O enxerto utilizado correspondeu ao segmento composto pelo terço intermédio da patela, ligamento patelar e porção cranial da tuberosidade da tíbia, coletado de cadáveres de cães e conservado em glicerina 98%. Os oito cães foram separados em dois grupos, A e B e cada um contendo quatro animais para avaliação artroscópica ("segunda observação") aos 60 e 120 dias do pós-operatório. Todos os cães foram submetidos ao procedimento cirúrgico no joelho direito. Clinicamente, avaliou-se o grau de claudicação, o perímetro muscular da coxa e o movimento de gaveta cranial nos oito cães no pré-operatório e semanalmente, até completarem-se 120 dias. Foi observada diminuição da circunferência da coxa significativa (p<0,05) após o período de dez dias em que os cães permaneceram com a bandagem compressiva, sendo recuperada de forma significativa até 13° semana. As pontuações obtidas na avaliação do movimento de gaveta (extensão e flexão) tornaram-se significativamente diferentes da pré-operatória entre a 5° e 15° semanas (p<0,05). Quatro cães apresentaram ao final do experimento ausência de instabilidade articular como na avaliação pré-operatória e os outros... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The aim of this study was to evaluate the use of patelar ligament allograft (BLB) conserved in 98% glycerin and fixated with interferemce screws as a substitute of the cranial cruciate ligament in dogs (CrCL). It was observed the feasibility and efficiency of this surgical technique and the graft and screws conduct along 120 days, basing on clinical, radiographic and arthroscopic capacity in detect the beginning and progress of secondary degenerative stifle joint changes. For this purpose, eight mongrel dogs weighting from 17,2 e 26,4 Kg were used. The graft consisted of the intermediate third of the pattela, patellar ligament and cranial portion of the tibial crest, harvested from dog cadavers and preserved in 98% glycerin.The eight dogs were randomly allocated in two groups, A and B, each one with four dogs for arthroscopic evaluation ("second-look") at 60 and 120 days postoperative. All the dogs were submitted to the surgical procedure in the right knee. Clinically, lameness degree, thigh girth measurement and cranial-drawer test were evaluated in the eight dogs in preoperative, and weekly, until complete 120 days. A significant decrease in thigh girth (p<0,05) observed after ten days period that the dogs were using compressive bandage was recovered until the 13th week. The cranial-drawer test scores (flexion and extension) became significantly different between the 5th and 15th weeks postoperative (p>0,05). Four dogs presented at the final study period with no articular instability just like the preoperative evaluation, and the other four with just a slight craniocaudal instability. In the lameness evaluation, from the 4th week, all the dogs presented mean score for stands with equal... (Complete abstract click electronic access below) / Orientador: João Guilherme Padilha Filho / Coorientador: Julio Carlos Canola / Banca: Cintia Lúcia Maniscalco / Banca: Márcia Rita Fernandes Machado / Banca: Patricia Popak Giordano / Banca: Gisleine Cristina Eimantas / Doutor

INTRODUÇÃO: Tem-se afirmado que a via de acesso minimamente invasiva na artroplastia total de joelho (ATJ) por não agredir o músculo quadríceps femoral permite reabilitação mais precoce. A fim de verificar a influência da preservação do aparelho extensor no ato cirúrgico, avaliou-se a força da musculatura extensora e flexora do joelho em pacientes submetidos à ATJ por duas vias de acesso diferentes. MÉTODOS: Este estudo comparou, no período de janeiro de 2005 a julho de 2006, os valores de torque máximo e de trabalho total obtidos por dinamometria isocinética aos seis meses de pós-operatório. Foram avaliados 12 indivíduos submetidos à ATJ por via de acesso minimamente invasiva e 8 indivíduos submetidos à ATJ por via de acesso transquadricipital. RESULTADOS: A análise estatística dos valores de torque máximo e de trabalho total absolutos e corrigidos pelo peso corporal não demonstrou diferença entre os dois grupos. CONCLUSÃO: Não há diferença de força da musculatura extensora e flexora do joelho aos seis meses de cirurgia. / INTRODUCTION: It has been stated that for total knee arthroplasty (TKA), the minimally invasive approach permits earlier rehabilitation because it is not prejudicial for the femoral quadriceps muscle. To verify the influence of preserving the extensor apparatus during surgery, strength of the knee extension and flexion muscles was evaluated in patients submitted to TKA with different approaches. METHODS: The values of maximum torque and total work obtained by isokinetic dynamometry six months after surgery were compared for the MIS group of 12 individuals submitted to TKA by the minimally invasive surgical approach and the Control group of eight others submitted to TKA by the transquadricipital approach, between January 2005 and July 2006. RESULTS: Statistical analysis of the absolute values of maximum torque and total work corrected by body weights did not show a difference between the two groups. CONCLUSION: There was no difference in the extension and flexion strength of the knee muscles six months after surgery.

Thesis (MScEng)--Stellenbosch University, 2013. / ENGLISH ABSTRACT: Osteoarthritis (OA), also known as degenerative joint disease is a progressive disorder of the joints caused by gradual loss of cartilage and resulting in the development of bony spurs and cysts at the margins of the joints. The degradation of the musculoskeletal system, which is mainly caused by joint injury, obesity (leading to musculoskeletal fatigue) and aging can also lead to osteoarthritis. The hands, feet, spine, and large weight-bearing joints, such as the hips and knees are commonly affected. The only medical solution to severe cases of osteoarthritis is the surgical reconstruction or replacement of a malformed or degenerated joint, better known as arthroplasty. Arthroplasty makes use of biomedical implants and replacements to restore functionality of the joints. Biomedical engineering in arthroplasty is an ever increasing field of interest as a result of its innovative improvements to surgical quality. Certain cases of partial osteoarthritis require less surgical action. Partial knee replacement surgery, also known as unicondylar (or unicompartmental) knee arthroplasty involves a covering which is placed over the affected area to resurface the affected bone and protect the patient from further degeneration. Advantages of partial replacement include faster recovery time and less post-operative pain. The biomedical implants used for these operations consist of a standardized implant that is fit onto the bone by modifying (cutting away) the outer structure of the bone. The result is known to cause post-operative discomfort among some patients. The problem with these standard designs includes the requirement of the removal of unaffected (healthy) bone matter, leading to induced trauma and pain for patients during the recovery phase of the operations. A preferred alternative to the standard design would be to create a custom implant for every patient, reducing the need to remove parts of unaffected bone matter. The implementation of this proposed method tends toward Minimally Invasive Surgery (MIS). MIS is normally preferred as it reduces the risk of various negative consequences of normal arthroplasty such as nerve or tendon damage during surgery. It could be argued that the proposed method may cause less damage to the fragile tendon, bloodflow, and nerve networks of the knee. Increasing material costs of metal products introduce great interest in more cost efficient forming processes to reduce the loss of redundant blank material. Incremental Sheet Forming (ISF), a relatively new class of forming process, has the potential to meet the need for this more efficient forming process. The ISF process is highly flexible, can be developed in normal milling machines, and can reduce production cost by up to 90% in comparison to processes such as stamping. The ISF process is a non-patented process, as the existing patents are referred to the designed machines and not the process. The availability of the ISF process contributes greatly to its attractiveness. ISF can be implemented in any facility that has access to a three- or more-axis CNC machine. The advantage of ISF implemented in CNC machines is that CNC technology has already reached a mature stage in development, contributing to the accuracy and methodology (such as feed rate or angular velocity of the tool) of the ISF process. The forming of valuable lightweight materials is well covered by ISF processes. A variety of studies contribute to research on the forming of titanium and titanium based alloys as part of ISF of lightweight materials. The ISF process utilizes the functionality of commercial CNC machines, improving the process availability of many manufacturing companies. The ISF process offers fast setup times and flexibility of the forming process. The purpose of this project is to define a process chain for creating a customized biomedical implant as well as determining the validity of the process chain by applying each step. The design and development procedure of a titanium based biomedical arthroplasty implant using innovative Incremental Sheet Forming (ISF) techniques will be documented, as well as an investigation of the financial cost and potential gain that this implant can offer. / AFRIKAANSE OPSOMMING: Osteoartritis is 'n gewrig siekte wat degeneratiewe newe-effekte behels in die gewrigte. Hierdie siekte lei to die geleidelike verlies van kraakbeen en lei tot die onreelmatige ontwikkeling van abnormale beengroei. Osteoartritis kan ook deur beserings in die gewrig veroorsaak word. Die hande, voete, ruggraat, en enige groter gewigdraende gewrigte, soos die heupe en knieë kan geaffekteer word. Die enigste mediese oplossing tot ernstige gevalle van die siekte is chirurgiese rekonstruksie of vervanging van die gewrig, meer bekend as artroplastie. Artroplastie maak gebruik van biomediese implantate om funksionaliteit van die gewrig te herstel. Biomediese ingenieurswese in artroplastie is 'n toenemende navorsingsveld as gevolg van die innoverende aspekte om chirurgiese kwaliteit te verhoog. Sekere gevalle van gedeeltelike osteoartritis vereis veel minder chirurgiese behandeling. Gedeeltelike knie vervanging chirurgie, meer bekend as unikompartementele knie artroplastie, behels 'n bedekking wat slegs die geaffekteerde been bedek, om die pasiënt van verdere degenerasie te beskerm. Voordele van gedeeltelike vervanging sluit vinniger herstel tyd en minder pyn in. Die biomediese implantate wat gebruik word vir hieride operasies bestaan uit standaard ontwerpe wat aan die been gepas word deur die wysiging (of wegsny) van die buitenste beenstruktuur. Die nagevolg van hierdie chirurgie is lang herstel periodes en kan ongemaklikheid in die knie veroorsaak. Die probleem met die bogenoemde standaard is dat die prosedure die verweidering van selfs ongeaffekteerde (of gesonde) been in sluit, wat lei tot verdere kniepyn en ongemak vir pasiënte lei tydens die herstelperiode. 'n Verkiesde alternatief tot die standaard ontwerpe is om 'n persoonlikke implantaat vir elke pasiënt te skep, en so kan die behoefte om dele van ongeaffekteerde been te behou moontlik wees. Die toepassing van die voorgestelde metode neig na Minimale Skade Chirurgie (MSC). MSC word gewoonlik verkies om die risiko van verskeie negatiewe nagevolge te verminder, en skade aan die tendon, bloed- en senunetwerke van die knie te beperk. Die toenemende materiaalkoste vand metal produkte lei tot 'n groot belangstelling in meer koste besparing vormings prosesse, om sodoende die verlies van oortollige materiaalverlies te verminder. Inkrementele Plaat Vervorming (IPV), 'n relatiewe nuwe klas van vervorming, is 'n waardige kanidaat om hierdie doel te bereik. Die IPV proses is baie toepaslik, en kan deur die gebruik van Rekenaar Numeriese Kontrole (RNK) masjienerie toegepas word. Verder sal dit vervaardigingskoste kan verlaag met soveel as 90% in vergelyking met ander prosese soos die stempel metode. Die beskikbaarheid van die IPV proses dra grootliks by tot die proses se aantreklikheid in die industrie. IPV kan geimplementeer word in enige fasiliteit wat toegang tot 'n drie-as RNK masjien het. Die voordeel van dit is die feit dat RNK masjienerie klaar ontwikkel en volwasse is, wat kan bydra tot goeie akkuraatheid in die vormingsproses. Die vervaardiging van laegewig materiale soos titaan of aluminium is gedokumenteer. 'n Verskeidenheid van studies dra waarde tot navorsing van die vormingsproses van titaan as deel hiervan. Die IPV proses bied vinnige opstel tye en goeie buigsaamheid met die vormingsproses, veral met behulp van 'n vyf-as masjien. Die doel van hierdie projek is om 'n proses ketting te ontwerp. Die proses ketting, wat uit vele stappe bestaan, sal die ontwerp en vervaardigingsproses van 'n persoonlike biomediese knie implantaat bevestig deur middel van die IPV vormings tegniek. Validasie van die proses ketting sal dus plaasvind deur die stappe van die voorgestelde proses ketting uit te voer. 'n Finale ondersoek sal die finansiele en regalutoriese aspekte van die projek aanspreek.

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No. of bitstreams: 2 Dissertação - Marilda Aparecida do Nascimento Souza - 2016.pdf: 2356436 bytes, checksum: a957e23bb1a3bdd13c4601abcd76f854 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2016-08-12 / INTRODUCTION: The main risks factors of dementia are: aging, medical comorbidities and genetic risk. Genetic factors are very important in the investigation of dementia. A positive family history and genetic factors associated can influence the age of onset of the disease. OBJECTIVES: To investigate the prevalence of family history in dementiating degenerative syndromes. To analyze the cognitive and functional performance of these patients to determine whether the positive FH is related to the early onset of the disease, to assess the prevalence of positive FH by dementia subtype, to compare the profile sociodemographic patients with degenerative dementia with family history and no family history and observe which group had more severe dementia. METHODS: This is a cross-sectional study, conducted in the memory clinic of a university hospital in Central Brazil . Were assigned 483 patients with a diagnosis of dementia, from May 2015 to May 2016. This study evaluated the sociodemographic variables, pre- existing diseases and FH of dementia, through a semi-structured interview. To analyze the cognitive level and functional capacity was used the Mini-mental state examination - MMSE and Pfeffer Questionnaire. The Clinical Dementia Rating - CDR was used to assess the severity of dementia. RESULTS: Of the 483 selected participants, 63.8% were women; the average age at evaluation was 74 years, most with low education (32.7%). We found that 45.5% of patients have an affected relative, mostly among simblings, and the age of onset of dementia is lower in people who have positive HF. Positive FH was greater in Huntington's disease 88.8%, followed by Semantic Dementia (66.7%) and primary progressive aphasia (66.7%). CONCLUSION: Family history proved very common in all types of dementia in our sample, mainly in Huntington's disease, followed by frontotemporal lobar degenerations. / INTRODUÇÃO: Entre os riscos para o surgimento das demências estão o envelhecimento, as comorbidades médicas e o risco genético. Fatores genéticos são muito relevantes na investigação das síndromes demenciais. História familiar (HF) positiva e fatores genéticos associados podem influenciar a idade de início da demência. OBJETIVOS: Investigar a prevalência de história familiar em síndromes degenerativas demenciantes; analisar o desempenho cognitivo e funcional desses pacientes; verificar se a HF positiva está relacionada com o inicio precoce da doença; avaliar a prevalência de HF positiva por subtipo de demência; comparar o perfil sociodemográfico de pacientes com demência degenerativa com HF e sem HF e verificar em qual grupo a demência foi mais grave. MÉTODOS: Trata-se de um estudo transversal, realizado no ambulatório de transtornos cognitivos de um hospital universitário, no Brasil Central, realizado em 483 pacientes com o diagnóstico de Demência, no período de maio de 2015 a maio de 2016. Foram avaliadas as variáveis sociodemográficas, as doenças pré-existentes e HF de demência, através de uma entrevista semiestruturada. Para análise do estado cognitivo e da capacidade funcional foram utilizados o Mini Exame do Estado Mental – MEEM e o questionário de atividades funcionais de Pfeffer. O Clinical Dementia Rating – CDR foi utilizado para verificar a gravidade da demência. RESULTADOS: Dos 483 participantes selecionados, 63,8% eram mulheres, com aproximadamente 74 anos, a maioria (32,7%) com baixíssima escolaridade. Do total de pacientes entrevistados, 45,5% possuem um familiar com a mesma doença, sendo o irmão o que mais apresentou alterações cognitivas semelhantes às do entrevistado. A idade de início da demência é menor em pessoas que possuem HF positiva. Entre os tipos de demências mais prevalentes, relacionadas à HF, foram identificadas a doença de Huntington (88,8%), seguida pela Demência Semântica (66,7%) e Afasia Primária Progressiva (66,7%). CONCLUSÃO: A HF positiva mostrou-se frequente nos casos de demência nesta amostra. O tipo de demência que mais apresentou essa herdabilidade foi a Doença de Huntington, seguida pelas degenerações lobares frontotemporais.