422 - Behavioral Variant Frontotemporal Dementia : an atypical case

Objective: To present an atypical clinical case and to review the literature on frontotemporal dementia (FTD) focusing on the most frequent psychopathological findings.Methods: Case report and a non systematic review using databases Pubmed, UpToDate, Medscape, between 2007 to 2020. Keywords: frontotemporal dementia, psychiatry, psychopathology.Results: FTD is a neurodegenerative syndrome that appears most frequently in the fifth and sixth decades, mostly before the age of 65. Six to seven years before the diagnosis of FTD, psychiatric disorders such as major depression can appear. The behavioral variant DFT is characterized by symptoms such as disinhibition, apathy or inertia, loss of empathy, hyperorality, persevering behaviors, executive dysfunction, and it is also associated with changes in imaging exams, namely frontal and temporal cortical atrophy, which may affect one or both hemispheres. We present the case of a 66-year-old female patient, accompanied for a long time in psychiatry by conversion and dissociative symptoms, associated with histrionic personality traits. She was hospitalized for deteriorating functioning, pauted by great agitation and maladjusted behavior, alteration of thought and speech, and marked perseverance, as well as periods of space-time disorientation. Analytically, there were no changes, as well as in imaging exams such as CT and MRI. It was performed an electroencephalogram (EEG) that demonstrated diffuse cortical dysfunction.Discussion/Conclusion: This case is atypical in the DFT pattern, regarding the age of onset and the absence of imaging findings. However, there was alterations in the EEG, which together with the symptomatic presentation point to DFT. This case exemplifies the difficulty in the management of symptoms, whose therapy is purely symptomatic and psychoeducational strategies for the family and caregivers are fundamental.

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Frontotemporal dementia misdiagnosed as schizophrenia or other psychotic disorder

European Psychiatry ◽

10.1016/j.eurpsy.2017.01.1575 ◽

2017 ◽

Vol 41 (S1) ◽

pp. s812-s812

Author(s):

A. Giamarelou ◽

P. Polychronopoulos ◽

M. Skokou ◽

L. Messinis ◽

P. Gourzis

Keyword(s):

Psychiatric Disorders ◽

Frontotemporal Dementia ◽

Social Impact ◽

Age Of Onset ◽

Correct Diagnosis ◽

Executive Dysfunction ◽

Final Diagnosis ◽

Somatization Disorder ◽

International Consensus ◽

Neuropsychological Evaluations

IntroductionFrontotemporal dementia (FTD) encompasses a group of clinical features that include personality and behavior changes (disinhibition, social isolation, antisocial behavior, compulsion) and executive dysfunction (poor planning, loss of judgment and loss of insight). These features may lead to an incorrect diagnosis of a primary psychiatric disorder.ObjectivesTo emphasize the difficulties in making a clinical distinction between early frontotemporal dementia and other psychiatric diseases.MethodsWe describe 11 patients who suffered from FTD, while initially had diagnosed with primary psychiatric disorders. The correct diagnosis was achieved by psychiatric and neuropsychological evaluations (WAIS SCALE, ACE-R, MMSE), neuroimaging studies (MRI 7/11, SPECT 8/11) and applying the international consensus criteria for FTD.ResultsAll patients (5 males and 6 females) were initially diagnosed with psychiatric disorders: schizophrenia (2/11), bipolar disorders (4/11), depression (5/11), schizoaffective disorder (1/11), somatization disorder (1/11), personality disorders (2/11), malingering (1/11), alcohol dependence (1/11), while 5 patients had more than one diagnosis. The age of onset varied from 19 to 53 years old. Final diagnosis of FTD was delayed on average 6,5 years from the onset of symptoms.ConclusionClinicians should be familiar with the clinical entity of FTD and its difficult distinction from other psychiatric disorders. A possible hospitalization of a patient with FTD in a psychiatric department and the social impact that it brings may be avoided. On the other hand, the proper care of FTD patients (pharmacological and psychosocial) improves the quality of life of patients and their caregivers.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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A clinical case of mesenchymal iris dysplasia for the first time in a family

POINT OF VIEW EAST – WEST ◽

10.25276/2410-1257-2021-4-77-79 ◽

2021 ◽

pp. 77-79

Author(s):

N.V. Gorbacheva ◽

◽

S.I. Makogon ◽

D.I. Ivanova ◽

J.S. Hlopkova ◽

...

Keyword(s):

Clinical Picture ◽

Clinical Case ◽

Age Of Onset ◽

Retinal Pigment ◽

Secondary Glaucoma ◽

Congenital Glaucoma ◽

The Family ◽

Male Line ◽

First Time ◽

Mesodermal Tissue

Frank-Kamenetsky syndrome is a rather rare ocular anomaly, which is characterized by hypoplasia of the iris stroma with exposure of its pigment layer and the development of secondary glaucoma, more often in the 2-3rd decade of life. Gonioscopy reveals goniodysgenesis in the form of "dentate" and anterior attachment of the root of the iris of a dirty gray color, as well as the inclusion of mesodermal tissue in the trabecular zone. The severity of the course of glaucoma is determined by the age of onset and is often malignant, gradually leading to blindness. Frank-Kamenetsky syndrome is observed in men and refers to a recessive disease linked to the X chromosome. The article presents a clinical case of mesenchymal iris dysplasia, first identified in a family, similar to the clinical picture of Frank-Kamenetsky syndrome. Previously, retinal pigment degeneration was observed in the male line of the family. Key words: Frank-Kamenetsky syndrome, glaucoma, congenital glaucoma.

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Hypochondrial Symptoms as the First Sign of Frontotemporal Dementia (FTD)

European Psychiatry ◽

10.1016/s0924-9338(09)70729-1 ◽

2009 ◽

Vol 24 (S1) ◽

pp. 1-1

Author(s):

S. Simões ◽

Á. Machado

Keyword(s):

Frontotemporal Dementia ◽

Clinical Case ◽

Psychiatric Symptoms ◽

Healthy Woman ◽

Speech Output ◽

The Family ◽

Total Lack ◽

Sexual Disinhibition ◽

Almost All ◽

Blue Baby Syndrome

Introduction:Psychiatric symptoms are very prevalent in FTD, in particular in its behavioural variant. Among these, hypochondrial symptoms can be found, usually along the course of the disease.Clinical case:A 70-year-old previously healthy woman was seen for progressive behavioural disturbances. Nine years before she started complaining of having almost all possible diseases. Every time that she saw a documentary or any news describing a disease, she said she had all its symptoms, so she must have the disease. The family started to find this strange, as every time she sake medical help, everything was fine. Even more strange was when she feared having completely inadequate diseases, like the “blue baby syndrome”. Several months after, she started having incomprehensible fears, refused to be left alone, locked all dors and windows and did not want to go outside because she was afraid that someone would harm her. Over the next years the full-blown FTD picture developed, with reduction of speech output, verbal and sexual disinhibition, impulsivity, hyperphagia and aggressivity, with total lack of insight. Upon examination she was coprolalic, inadequate, perseverant and had frontal release signs. MRI showed bilateral frontotemporal atrophy and PET revealed frontotemporal hypometabolism.Conclusion:Although hypochondrial symptoms are one of the affective classical symptoms in FTD, they are unusual in first stages of disease, and has not been, to our knowledge, reported as a presenting sign. These findings highlight the need to bear in mind this diagnosis in all patients presenting with novel psychiatric symptoms in late life.

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An autopsy-proven case of Corticobasal degeneration heralded by Pontine infarction

BMC Neurology ◽

10.1186/s12883-021-02178-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Dallah Yoo ◽

Sung-Hye Park ◽

Sungwook Yu ◽

Tae-Beom Ahn

Keyword(s):

Neurodegenerative Disorders ◽

Clinical Manifestations ◽

Neuronal Loss ◽

Corticobasal Degeneration ◽

Executive Dysfunction ◽

Lacunar Infarction ◽

Cortical Atrophy ◽

Dystonic Posturing ◽

Proven Case ◽

The Right

Abstract Background Neurodegenerative disorders are characterized by insidious progression with poorly-delineated long latent period. Antecedent clinical insult could rarely unmask latent neurodegenerative disorders. Here, we report an autopsy-proven case of corticobasal degeneration which was preceded by a lacunar infarction. Case presentation A 58-year-old man presented with acute ataxia associated with a lacunar infarction in the right paramedian pons. His ataxia persisted with additional progressive gait difficulty and left arm clumsiness. Six months later, a follow-up neurological examination showed asymmetrical bradykinesia, apraxia, dystonic posturing, postural instability, and mild ataxia of the left limbs. Cognitive examination revealed frontal executive dysfunction and visuospatial difficulties. Dopamine transporter imaging scan demonstrated bilateral reduced uptakes in mid-to-posterior putamen, more prominent on the right side. Levodopa-unresponsive parkinsonism, asymmetric limb dystonia, and ideomotor apraxia became more conspicuous, while limb ataxia gradually vanished. The patient became unable to walk without assistance after 1 year, and died 4 years after the symptom onset. Autopsy findings showed frontoparietal cortical atrophy, ballooned neurons, and phosphorylated tau-positive astrocytic plaques and neuropil threads with gliosis and neuronal loss, confirming the corticobasal degeneration. Conclusions The case illustrates that precedent clinical events such as stroke might tip a patient with subclinical CBS into overt clinical manifestations.

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Shape Profile of Corpus Callosum As a Signature to Phenotype Different Dementia

Journal of Neurosciences in Rural Practice ◽

10.1055/s-0040-1716805 ◽

2020 ◽

Author(s):

Sandhya Mangalore ◽

Shiva Shanker Reddy Mukku ◽

Sriharish Vankayalapati ◽

Palanimuthu Thangaraju Sivakumar ◽

Mathew Varghese

Keyword(s):

Corpus Callosum ◽

Frontotemporal Dementia ◽

Corticobasal Degeneration ◽

Lewy Body Dementia ◽

Clinical History ◽

The Body ◽

Cortical Atrophy ◽

Alzheimer Dementia ◽

Geriatric Clinic ◽

Cortical Regions

Abstract Background Phenotyping dementia is always a complex task for a clinician. There is a need for more practical biomarkers to aid clinicians. Objective The aim of the study is to investigate the shape profile of corpus callosum (CC) in different phenotypes of dementia. Materials and Methods Our study included patients who underwent neuroimaging in our facility as a part of clinical evaluation for dementia referred from Geriatric Clinic (2017–2018). We have analyzed the shape of CC and interpreted the finding using a seven-segment division. Results The sample included MPRAGE images of Alzheimer’ dementia (AD) (n = 24), posterior cortical atrophy- Alzheimer’ dementia (PCA-AD) (n = 7), behavioral variant of frontotemporal dementia (Bv-FTD) (n = 17), semantic variant frontotemporal dementia (Sv-FTD) (n = 11), progressive nonfluent aphasia (PNFA) (n = 4), Parkinson’s disease dementia (PDD) (n = 5), diffuse Lewy body dementia (n = 7), progressive supranuclear palsy (PSP) (n = 3), and corticobasal degeneration (CBD) (n = 3). We found in posterior dementias such as AD and PCA-AD that there was predominant atrophy of splenium of CC. In Bv-FTD, the genu and anterior half of the body of CC was atrophied, whereas in PNFA, PSP, PDD, and CBD there was atrophy of the body of CC giving a dumbbell like profile. Conclusion Our study findings were in agreement with the anatomical cortical regions involved in different phenotypes of dementia. Our preliminary study highlighted potential usefulness of CC in the clinical setting for phenotyping dementia in addition to clinical history and robust biomarkers.

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Chelonicola and Poulinea, two new gomphonemoid diatom genera (Bacillariophyta) living on marine turtles from Costa Rica

Phytotaxa ◽

10.11646/phytotaxa.233.3.2 ◽

2015 ◽

Vol 233 (3) ◽

pp. 236 ◽

Cited By ~ 21

Author(s):

Roksana Majewska ◽

J. P. Kociolek ◽

Evan W. Thomas ◽

Mario De Stefano ◽

Mario Santoro ◽

...

Keyword(s):

Costa Rica ◽

Marine Mammals ◽

Sea Turtles ◽

Sea Turtle ◽

New Genera ◽

Olive Ridley ◽

Lepidochelys Olivacea ◽

Marine Turtles ◽

The Family ◽

Long Time

Marine mammals such as whales and dolphins have been known for a long time to host a very specific epizoic community on their skin. Less known however is the presence of a similar community on the carapaces of sea turtles. The present study is the first describing new taxa inhabiting sea turtle carapaces. Samples, collected from nesting olive ridley sea turtles (Lepidochelys olivacea) on Ostional Beach (Costa Rica), were studied using light and scanning electron microscopy. Two unknown small-celled gomphonemoid taxa were analysed in more detail and are described as two new genera, closely related to other gomphonemoid genera with septate girdle bands, such as Tripterion, Cuneolus and Gomphoseptatum. Chelonicola Majewska, De Stefano & Van de Vijver gen. nov. has a flat valve face, uniseriate striae composed of more than three areolae, simple external raphe endings, internally a siliceous flap over the proximal raphe endings and lives on mucilaginous stalks. Poulinea Majewska, De Stefano & Van de Vijver gen. nov. has at least one concave valve, uniseriate striae composed of only two elongated areolae, external distal raphe endings covered by thickened siliceous flaps and lives attached to the substrate by a mucilaginous pad. Chelonicola costaricensis Majewska, De Stefano & Van de Vijver sp. nov. and Poulinea lepidochelicola Majewska, De Stefano & Van de Vijver sp. nov. can be separated based on stria structure, girdle structure composed of more than 10 copulae, raphe structure and general valve outline. A cladistics analysis of putative members of the Rhoicospheniaceae indicates that the family is polyphyletic. Chelonicola and Poulinea are sister taxa, and form a monophyletic group with Cuneolus and Tripterion, but are not closely related to Rhoicosphenia, or other genera previously assigned to this family. Features used to help diagnose the family such as symmetry and presence of septa and pseudosepta are homoplastic across the raphid diatom tree of life.

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A Comparative Study of the Behavioral Profile of the Behavioral Variant of Frontotemporal Dementia and Parkinson’s Disease Dementia

Dementia and Geriatric Cognitive Disorders Extra ◽

10.1159/000512042 ◽

2020 ◽

pp. 182-194

Author(s):

Dinesh Saini ◽

Adreesh Mukherjee ◽

Arijit Roy ◽

Atanu Biswas

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Frontotemporal Dementia ◽

Severe Disease ◽

Executive Dysfunction ◽

Behavioral Symptoms ◽

Parkinson’S Disease Dementia ◽

Subcortical Dementia ◽

Behavioral Profile ◽

Cortical Dementia

Background: Executive dysfunction is the common thread between pure cortical dementia like the behavioral variant of frontotemporal dementia (bvFTD) and subcortical dementia like Parkinson’s disease dementia (PDD). Although there are clinical and cognitive features to differentiate cortical and subcortical dementia, the behavioral symptoms differentiating these 2 conditions are still not well known. Objective: To evaluate the behavioral profile of bvFTD and PDD and compare them to find out which behavioral symptoms can differentiate between the two. Methods: Twenty consecutive patients with bvFTD (>1 year after diagnosis) and 20 PDD patients were recruited according to standard diagnostic criteria. Behavioral symptoms were collected from the reliable caregiver by means of a set of questionnaires and then compared between the 2 groups. Results: bvFTD patients had more severe disease and more behavioral symptoms than PDD. bvFTD patients were different from PDD patients due to their significantly greater: loss of basic emotion (p < 0.001, odds ratio [OR] 44.33), loss of awareness of pain (p < 0.001, OR 44.33), disinhibition (p < 0.001, OR 35.29), utilization phenomenon (p = 0.008, OR 22.78), loss of taste discrimination (p < 0.001, OR 17), neglect of hygiene (p = 0.001, OR 13.22), loss of embarrassment (p = 0.003, OR 10.52), wandering (p = 0.004, OR 9.33), pacing (p = 0.014, OR 9), selfishness (p = 0.014, OR 9), increased smoking (p = 0.014, OR 9), increased alcohol consumption (p = 0.031, OR 7.36), social avoidance (p = 0.012, OR 6.93), mutism (p = 0.041, OR 5.67), and failure to recognize objects (p = 0.027, OR 4.33). The bvFTD patients were also significantly less suspicious (p = 0.001, OR 0.0295), less inclined to have a false belief that people were in their home (p = 0.014, OR 0.11) and had fewer visual illusions/hallucinations (p = 0.004, OR 0.107) than PDD patients. Conclusion: Behavioral symptoms are helpful to distinguish bvFTD from PDD, and thus also cortical dementia with frontal-lobe dysfunction from subcortical dementia.

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FAMILY DIABETES AND MAIN NONCOMMUNICABLE DISEASES: THE DESCRIBED AND POTENTIAL EFFECT OF METFORMIN (remembering Vladimir Dilman)

Успехи геронтологии ◽

10.34922/ae.2020.33.4.013 ◽

2020 ◽

pp. 713-720

Author(s):

Л. М. Берштейн

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Potential Effect ◽

Noncommunicable Diseases ◽

The Family ◽

Whole Number ◽

Long Time ◽

Relationship Of ◽

Antidiabetic Biguanides

Работа посвящена двум медико-биологическим проблемам - семейному диабету (имея в виду наличие случаев сахарного диабета 2-го типа в семье, в том числе в разных поколениях), а также особенностям его связей с основными неинфекционными заболеваниями человека и приурочена к юбилею известнейшего отечественного специалиста (теоретика и врача) в области геронтологии и эндокринологии профессора В. М. Дильмана. Широко признанные труды Владимира Михайловича, основанные на оригинальных идеях и породившие важные практические следствия (включая применение антидиабетических бигуанидов в не использовавшихся до него областях, необходимость устранения метаболической иммунодепрессии, учета изменений с возрастом на уровне гипоталамического порога в различных гомеостатических системах и целого ряда других предложений), как представляется, в течение долгого времени будут питать интеллектуальным материалом и стимулировать к дальнейшему поиску его последователей и специалистов, которым еще предстоит окунуться в область, очерченную В. М. Дильманом и интересовавшую его в течение многих лет. The work discusses the two biomedical problems: family diabetes (bearing in mind the presence of cases of type 2 diabetes mellitus in the family, including its different generations) and the features of relationship of family diabetes with major non-communicable human diseases (NCDs). The paper is timed to the anniversary of the famous - in our country and abroad - expert in the ﬁeld of gerontology and endocrinology, Professor V. M. Dilman. The widely recognized works of V. M. Dilman, based on original ideas and giving rise to important practical consequences (including the use of antidiabetic biguanides in areas not studied before him, the need to eliminate metabolic immunodepression, to take into account the changes with age at the level of the hypothalamic threshold in various homeostatic systems and a whole number of other essential proposals), which for a long time, as it seems, will stimulate the further scientiﬁc search of his followers and specialists, who have yet to get acquainted with the area that attracted Prof. Dilman and interested him for many years.

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Cerebral autosomo-dominant arteriopathy with subcortical infarctions and leukoencephalopathy

Russian neurological Journal ◽

10.30629/2658-79472021-26-5-30-38 ◽

2021 ◽

Vol 26 (5) ◽

pp. 30-38

Author(s):

E. A. Savchuk ◽

E. P. Golubinskaya ◽

T. N. Shcherbinina ◽

G. Yu. Voronin ◽

E. O. Savchuk ◽

...

Keyword(s):

Clinical Case ◽

Structural Changes ◽

Light And Electron Microscopy ◽

Joint Work ◽

Genetic Studies ◽

Small Vessels ◽

Clinical Case Study ◽

The Family ◽

Probable Diagnosis

The article presents an analysis of the literature and a clinical case of a rare disease from the group of diseases of small vessels — cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL).It is based on the deposition of osmiophilic granulation material in vessels of small and medium caliber. A mutation in the NOTCH3 gene on chromosome 19p13 leads to significant structural changes in the walls of small arteries due to impaired diﬀerentiation and maturation of smooth muscle cells.CADASIL is characterized by four key symptoms: migraines, recurrent ischemic strokes, mental disorders, and cognitive decline. The clinical case study is presented from the standpoint of a multidisciplinary patient-oriented approach of joint work of neurologists and morphologists. On the basis of clinical and laboratory criteria, a probable diagnosis was made. To confirm it, a muscle biopsy was performed (a musculocutaneous flap from the inner surface of the thighs and forearms), in order to conduct light and electron microscopy. The details of the results of the morphological study, which made it possible to verify the patient’s diagnosis, are presented. Diﬀerential diagnostic judgments are presented and recommendations for genetic studies in the family, prognosis and treatment of the patient are given.

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Young-onset frontotemporal dementia with FUS pathology

Practical Neurology ◽

10.1136/practneurol-2020-002730 ◽

2020 ◽

pp. practneurol-2020-002730

Author(s):

Matthew Gowell ◽

Ian Baker ◽

Olaf Ansorge ◽

Masud Husain

Keyword(s):

Frontotemporal Dementia ◽

Social Withdrawal ◽

Behavioural Change ◽

Executive Dysfunction ◽

Cognitive Testing ◽

Young Onset ◽

Fused In Sarcoma ◽

Severe Impairment ◽

Characteristic Features ◽

Relevant Family History

Frontotemporal dementia (FTD) is an uncommon cause of behavioural change in adults under the age of 50. A 44-year-old man presented with progressive neuropsychiatric disturbance characterised by social withdrawal, apathy, loss of empathy, motor stereotypies and hyperorality. Cognitive testing identified severe impairment, including executive dysfunction. MR scan of the brain showed bilateral symmetrical frontal atrophy. There was no relevant family history, and targeted genetic testing for FTD-associated variants in MAPT, GRN and C9orf72 genes proved negative. He became more withdrawn with disinhibited behaviour; his condition progressively worsened and he died 6 years later. The pathological diagnosis was frontotemporal lobar degeneration with fused-in-sarcoma (FUS) pathology, a rare sporadic cause of FTD, accounting for only 5%–10% of cases, its characteristic features including very young onset, motor stereotypies and hyperorality.

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