ID

13760

Beskrivning

Background and Purpose: The purpose of the DESCRIBE study is to document the natural course of diseases in context of medical care of neurodegenerative disorders as well as cerebrovascular diseases and to perform phenotyping of the test persons. Disease-spanning analyses of the measured clincial data, the results of the imaging processes, results of the analysis of the biometerials including genetic analysis are planed. Principal Investigator: Prof. Klockgether, Dr. Spottke DZNE, Bonn. Source: DESCRIBE-Studie http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html Participating Study Sites: Berlin, Bonn, Göttingen, Dresden, Köln, Magdeburg, München, Rostock/Greifswald, Tübingen

Länk

http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html

Nyckelord

D016430

Diagnostic Procedure

D004608

Neurodegenerative Krankheiten

Uppladdad den

3 mars 2016

DOI

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Licens

Creative Commons BY-NC 3.0

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DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Diagnostic Criteria

model
Detaljer

CRF Diagnostic Criteria

1 Formulär

StudyEvent: ODM
1. CRF Diagnostic Criteria

Name

Typ

Description | Question | Decode (Coded Value)

Datatyp

Alias

Date of visit

Item Group

Date of visit

C1320303 (UMLS CUI-1)

date of visit

Item

Date of visit

date

C1320303 (UMLS CUI [1])

study id

Item

Study-ID:

text

C2826693 (UMLS CUI [1])

visit name

Item

Visit:

text

C2826704 (UMLS CUI [1])

Mild cognitive impairment (MCI)

Item Group

Mild cognitive impairment (MCI)

C1270972 (UMLS CUI-1)

current MCI

Item

Is the patient currently diagnosed with a MCI according to Winblad & Petersen 2004?

boolean

C1270972 (UMLS CUI [1,1])
C0150312 (UMLS CUI [1,2])

cognitive degration

Item

Cognitive Impairment 1. Subjective deterioration of cognition observed by the patient or an informant and/or...

boolean

C1270972 (UMLS CUI [1,1])
C0854193 (UMLS CUI [1,2])

psychometric test proving cognitive degradation

Item

2. Evidence of degradation of cognition in time due to psychometric tests

boolean

C1270972 (UMLS CUI [1,1])
C0033920 (UMLS CUI [1,2])

everyday functioning

Item

3. Ability to perform activities of everyday living/ minimal impairment of complex instrumental everyday functions

boolean

C0562507 (UMLS CUI [1])

signs of disturbed consciousness

Item

4. No signs of disturbed consciousness, of a delirium, of a dementia or of an amnesic aphasia that cannot be explained better by other psychotic illnesses (e.g. a disorder in connection with psychotropic substances or major depression).

boolean

C0234428 (UMLS CUI [1])
C0011206 (UMLS CUI [2])
C0497327 (UMLS CUI [3])

wordlist

Item

Operationalization 1. Wordlist - delayed word retrieval

boolean

C0456660 (UMLS CUI [1])

visuospatial ability

Item

2. Visuospatial ability - Drawing

boolean

C0814069 (UMLS CUI [1])
C0565772 (UMLS CUI [2])

visuospatial ability delayed

Item

3. Visuospatial ability - Delayed retrieval

boolean

C0814069 (UMLS CUI [1])

trail making test

Item

4. Trial making test A or B

boolean

C0040604 (UMLS CUI [1])

semantic or phonetic fluency

Item

5. Semantic or phonetic fluency

boolean

C0233714 (UMLS CUI [1])

object naming

Item

6. Object naming

boolean

C0451342 (UMLS CUI [1])

normal finding FAQ

Item

7. No abnormal finding FAQ

boolean

C3827007 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])

amnesic MCI single domain

Item

Classification a. Amnesic MCI single domain (only memory)

boolean

C1270972 (UMLS CUI [1])

amnesic MCI multi domain

Item

b. Amnesic MCI multi domain (memory and one additional area)

boolean

C1270972 (UMLS CUI [1])

non-amnesic MCI single domain

Item

c. Non-amnesic MCI single domain (one area, except memory)

boolean

C1270972 (UMLS CUI [1])

non-amnesic MCI multi domain

Item

d. Non-amnesic MCI multi domain (several areas, except memory)

boolean

C1270972 (UMLS CUI [1])

Dementia in Alzheimer's Disease (AD)

Item Group

Dementia in Alzheimer's Disease (AD)

C3665464 (UMLS CUI-1)

NINCDS/ADRDA-Criteria AD diagnosis

Item

Is the patient currently diagnosed with AD according to NINCDS/ADRDA-Criteria (McKhann et al. 1984)?

boolean

C3665464 (UMLS CUI [1,1])
C2828081 (UMLS CUI [1,2])

dementia

Item

I. Necessary requirements Evidence of dementia in a clinical examination including neuropsychological tests

boolean

C0497327 (UMLS CUI [1])
C0027902 (UMLS CUI [2])

cognitive deficits

Item

Deficits in at least two cognitive areas

boolean

C0009241 (UMLS CUI [1])

progressive disturbance of memory

Item

Progressive disturbance of memory and other cognitive functions

boolean

C1864985 (UMLS CUI [1,1])
C0025260 (UMLS CUI [1,2])
C1864985 (UMLS CUI [2,1])
C0392335 (UMLS CUI [2,2])

no consciousness disturbance

Item

No consciousness disturbance

boolean

C0424525 (UMLS CUI [1])

age at onset

Item

Onset between age of 40 and 90, mostly 65 and older

boolean

C0150907 (UMLS CUI [1])

other system- or brain diseases

Item

No evidence of other system- or brain diseases as cause

boolean

C0442893 (UMLS CUI [1])
C0006111 (UMLS CUI [2])

progressive deterioration of specific cognitive functions

Item

II. Subsidiary Findings Progressive deterioration of specific cognitive functions, e.g. of speech (aphasia), motor activity (apraxia) and perception (agnosia)

boolean

C0854193 (UMLS CUI [1,1])
C0205329 (UMLS CUI [1,2])

impairment of everyday activities and behavioral change

Item

Impairment of everyday activities and emerging of behavior modifications

boolean

C0562507 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])
C0542299 (UMLS CUI [2])

family history of similar disorders

Item

Family history of similar disorders (especially if neurologically proven)

boolean

C0241889 (UMLS CUI [1])

cerebral atrophy

Item

Results of additional examinations: Evidence of - progressively evolving in follow ups- cerebral atrophy due to imaging diagnostics

boolean

C0235946 (UMLS CUI [1])

normal finding or unspecific changes in EEG

Item

Normal finding or unspecific changes in EEG

boolean

C0234550 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])
C0234550 (UMLS CUI [2,1])
C0750540 (UMLS CUI [2,2])

normal finding of cerebrospinal fluid

Item

Normal finding of cerebrospinal fluid

boolean

C0007806 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])

diagnosis of Alzheimers disease

Item

III. Matching with a probable diagnosis of Alzheimer's disease Temporal stagnation in course of disease

boolean

C1848980 (UMLS CUI [1,1])
C0242656 (UMLS CUI [1,2])

attendant symptoms

Item

Attendant symptoms like depression, insomnia, incontinence, illusion, hallucination, delusion, sudden aggressive outbreaks, sexual dysfunction and weight loss

boolean

C0011581 (UMLS CUI [1])
C0917801 (UMLS CUI [2])
C0021167 (UMLS CUI [3])
C0020903 (UMLS CUI [4])
C0018524 (UMLS CUI [5])
C0011253 (UMLS CUI [6])
C0001807 (UMLS CUI [7])
C0549622 (UMLS CUI [8])
C0936227 (UMLS CUI [9])

neurological distinctive feature

Item

Neurological distinctive feature (particularly in case of advanced disease) like elevated muscle tonus, myoclonus or gait disturbance

boolean

C1704258 (UMLS CUI [1,1])
C0205494 (UMLS CUI [1,2])
C0026841 (UMLS CUI [2])
C0027066 (UMLS CUI [3])
C1856566 (UMLS CUI [4])

epileptic seizure

Item

Epileptic seizure (in case of advanced disease)

boolean

C1411824 (UMLS CUI [1])

CT commensurate with age

Item

CT commensurate with age

boolean

C0040405 (UMLS CUI [1,1])
C0001783 (UMLS CUI [1,2])

sudden apoplectic onset

Item

IV. Exclusion Criteria Sudden, apoplectic onset

boolean

C1388315 (UMLS CUI [1,1])
C1276802 (UMLS CUI [1,2])

focal neurological signs

Item

Focal neurological signs like hemiparesis, sensorial failures, visual field defects or problems with coordination in early stage of disease

boolean

C0018989 (UMLS CUI [1])
C0152027 (UMLS CUI [2])
C0004134 (UMLS CUI [3])
C3887875 (UMLS CUI [4])

epileptic seizures or gait disturbance

Item

Epileptic seizures or gait disturbance at onset or in early stage of disease

boolean

C1411824 (UMLS CUI [1])
C1856566 (UMLS CUI [2])

dementia syndrome with atypical symptomatic

Item

V. Clinical possible AD Dementia syndrome with atypical symptomatic with regard to onset, course and deficit profile, in absence of other neurological, psychiatric or internal disease that could cause the dementia syndrome

boolean

C0497327 (UMLS CUI [1,1])
C0231220 (UMLS CUI [1,2])

second systemic or brain disease

Item

Second systemic or brain disease that could cause dementia, but is commonly not regarded as a substantial cause

boolean

C0442893 (UMLS CUI [1])
C0006111 (UMLS CUI [2])

progressive severe cognitive deficit

Item

Progressive severe cognitive deficit without notable different cause

boolean

C0009241 (UMLS CUI [1,1])
C0205329 (UMLS CUI [1,2])
C0205082 (UMLS CUI [1,3])

Posterior cortical atrophy (PCA)

Item Group

Posterior cortical atrophy (PCA)

C0235946 (UMLS CUI-1)
C0205095 (UMLS CUI-2)

PCA diagnosis

Item

Is the patient currently diagnosed with PCA according to the criteria of Mendez et.al. 2002?

boolean

C0235946 (UMLS CUI [1,1])
C0205095 (UMLS CUI [1,2])

insidious onset and gradual progression

Item

Main symptoms (all symptoms have to be present) A. Insidious onset and gradual progression

boolean

C1298634 (UMLS CUI [1])
C1854645 (UMLS CUI [2])

visual disorders

Item

B. Presentation with visual disorders while visual function intact

boolean

C0042790 (UMLS CUI [1])

prominent complex visual deficits

Item

C. Evidence of prominent complex visual deficits

boolean

C3665347 (UMLS CUI [1,1])
C0205402 (UMLS CUI [1,2])
C0439855 (UMLS CUI [1,3])

Balint syndrome

Item

Elements of Balint syndrome

boolean

C0270706 (UMLS CUI [1])

visual agnosia

Item

Visual agnosia

boolean

C0234502 (UMLS CUI [1])

dressing apraxia

Item

Dressing apraxis

boolean

C0234529 (UMLS CUI [1])

topographic disorientation

Item

Topographic disorientation

boolean

C0233407 (UMLS CUI [1,1])
C1639223 (UMLS CUI [1,2])

relatively small deficits of memory and word fluency

Item

D. Relatively small memory deficits and word fluency deficits

boolean

C0233794 (UMLS CUI [1,1])
C1843272 (UMLS CUI [1,2])
C2018029 (UMLS CUI [2,1])
C1843272 (UMLS CUI [2,2])

relatively good awareness of disability

Item

E. Relatively good awareness of disability with or without depression

boolean

C0424227 (UMLS CUI [1,1])
C0205170 (UMLS CUI [1,2])

presenile onset

Item

Subsidiary diagnosis A. Presenile onset

boolean

C0750901 (UMLS CUI [1])

alexia

Item

B. Alexia

boolean

C0002018 (UMLS CUI [1])

Gerstmann syndrome

Item

C. Elements of Gerstmann syndrome

boolean

C0017494 (UMLS CUI [1])

ideomotor apraxia

Item

D. Ideomotor apraxia

boolean

C0234523 (UMLS CUI [1])

physical examination

Item

E. Physical examination within the norms

boolean

C0031809 (UMLS CUI [1])

impairment of perceptual functions

Item

F. Neuropsychiatric: Prominent impairment of perceptual functions

boolean

C0233746 (UMLS CUI [1])

occipitoparietal abnormality

Item

Imaging: Prominent occipitoparietal abnormality (especially in functional imaging) with relative recess of frontal and mesiotemporal regions

boolean

C1704258 (UMLS CUI [1,1])
C1184145 (UMLS CUI [1,2])
C0442030 (UMLS CUI [1,3])

Vascular dementia

Item Group

Vascular dementia

C0011269 (UMLS CUI-1)

VD diagnoses

Item

Is the patient currently diagnosed with VD according to the criteria of NINDS/AIREN (Roman et al. 1993?)

boolean

C0011269 (UMLS CUI [1])

cognitive impairment

Item

I. Dementia Cognitive impairment regarding previous higher functional status manifested by disturbance of memory

boolean

C0009241 (UMLS CUI [1])
C0233794 (UMLS CUI [2])

orientation

Item

Orientation

boolean

C0029266 (UMLS CUI [1])

attention

Item

Attention

boolean

C0004268 (UMLS CUI [1])

speech

Item

Speech

boolean

C0037817 (UMLS CUI [1])

spatial visualization ability

Item

Spatial visualization ability

boolean

C0679024 (UMLS CUI [1])

ability to judge

Item

Ability to judge

boolean

C0022423 (UMLS CUI [1])

action ability

Item

Action ability

boolean

C1820715 (UMLS CUI [1])

abstraction ability

Item

Abstraction ability

boolean

C0679195 (UMLS CUI [1])

motor control

Item

Motor control

boolean

C0517961 (UMLS CUI [1])

praxia

Item

Praxia

boolean

C0871470 (UMLS CUI [1,1])
C0234621 (UMLS CUI [1,2])

everyday activities

Item

Activities of daily living

boolean

C0001288 (UMLS CUI [1])

disturbed consciousness

Item

Exclusion criteria Disturbed consciousness

boolean

C0549249 (UMLS CUI [1])

delirium

Item

Delirium

boolean

C0011206 (UMLS CUI [1])

psychosis

Item

Psychosis

boolean

C0033975 (UMLS CUI [1])

severe aphasia

Item

Severe aphasia

boolean

C0003537 (UMLS CUI [1,1])
C0205082 (UMLS CUI [1,2])

sensomotoric disorder

Item

Prominent sensomotoric disorder, which makes testing impossible

boolean

C0036675 (UMLS CUI [1])

systemic or other brain diseases

Item

Systemic or other brain diseases, that can cause cognitive disorders for their part

boolean

C2874347 (UMLS CUI [1])

cerebrovascular disease

Item

II. Cerebrovascular disease Central focal neurological signs with or without anamnestic stroke and signs of relevant cerebrovascular disease in CT/MRT

boolean

C1392298 (UMLS CUI [1])
C0038454 (UMLS CUI [2])
C0007820 (UMLS CUI [3])

bilateral artery cerebri anterior

Item

A. cerebri anterior, bilateral

boolean

C0149561 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])

anterior cerebral artery

Item

A. cerebri anterior

boolean

C0149561 (UMLS CUI [1])

parietotemporal or temporoparietal association complex

Item

Parietotemporal or temporoparietal association complex

boolean

C3498498 (UMLS CUI [1])
C3495412 (UMLS CUI [2])

watershed infarction

Item

Superiore frontale and parietal watershed zone

boolean

C0333557 (UMLS CUI [1])

basal ganglia and frontal lacuna of white matter

Item

Disease of small vessels: Basal ganglia and frontal lacuna of white matter

boolean

C0152295 (UMLS CUI [1,1])
C1459585 (UMLS CUI [1,2])
C0004781 (UMLS CUI [1,3])
C0152295 (UMLS CUI [2,1])
C1459585 (UMLS CUI [2,2])
C0016733 (UMLS CUI [2,3])

periventricular white matter lesions

Item

Broad periventricular white matter lesions

boolean

C2675929 (UMLS CUI [1,1])
C0228157 (UMLS CUI [1,2])

bilateral thalamus lesions

Item

Bilateral thalamus lesions

boolean

C2026261 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])

great vessel lesions

Item

Severity: great vessel lesions in dominant hemisphere

boolean

C0221198 (UMLS CUI [1,1])
C3641002 (UMLS CUI [1,2])
C0228465 (UMLS CUI [1,3])
C1527180 (UMLS CUI [1,4])

bilateral lesions of great vessel

Item

Bilateral lesions of great vessel in hemisphere

boolean

C0221198 (UMLS CUI [1,1])
C3641002 (UMLS CUI [1,2])
C0228465 (UMLS CUI [1,3])
C0238767 (UMLS CUI [1,4])

leukoencephalopathy

Item

Leukoencephalopathy => 25% of white matter

boolean

C0023524 (UMLS CUI [1])

onset of dementia

Item

III. Combination of I. and II. Onset of dementia within three months after stroke

boolean

C0011269 (UMLS CUI [1,1])
C0332162 (UMLS CUI [1,2])

abrupt degeneration of cognitive functions

Item

Abrupt degeneration of cognitive functions

boolean

C0338656 (UMLS CUI [1,1])
C1276802 (UMLS CUI [1,2])

progression of cognitive deficits

Item

Fluctuating or gradual progression of cognitive deficits

boolean

C1854645 (UMLS CUI [1,1])
C0338656 (UMLS CUI [1,2])
C0338656 (UMLS CUI [2,1])
C0231241 (UMLS CUI [2,2])

gait disturbance

Item

Supporting Symptoms: Early occuring gait disturbance

boolean

C1856566 (UMLS CUI [1,1])
C0596473 (UMLS CUI [1,2])

motoric instability and frequent support

Item

Motoric instability and frequent support

boolean

C0260026 (UMLS CUI [1])
C2197383 (UMLS CUI [2])

bladder problem

Item

Bladder problem (frequent urge to urinate, not urological explainable)

boolean

C0579152 (UMLS CUI [1])

pseudobulbar paralysis

Item

Pseudobulbar paralysis

boolean

C1390905 (UMLS CUI [1])

personality disorder or mood alteration

Item

Personality disorder or mood alteration

boolean

C0031212 (UMLS CUI [1])
C2939186 (UMLS CUI [2])

abulia

Item

Abulia

boolean

C0919974 (UMLS CUI [1])

depression

Item

Depression

boolean

C0011581 (UMLS CUI [1])

emotional incontinence

Item

Emotional incontinence

boolean

C1142234 (UMLS CUI [1])

other subcortical deficits

Item

Other subcortical deficits

boolean

C2987487 (UMLS CUI [1,1])
C0815275 (UMLS CUI [1,2])
C0205394 (UMLS CUI [1,3])

Frontotemporal dementia, behavioral variant

Item Group

Frontotemporal dementia, behavioral variant

C4011788 (UMLS CUI-1)

bvFTD diagnosis

Item

Is the patient currently diagnosed with bvFTD according to the criteria of Raskovsky et. al. 2011?

boolean

C4011788 (UMLS CUI [1])

slowly progressing disturbance of behavior or of cognition

Item

I. Signs of neurodegenerative disease: Slowly progressing disturbance of behavior or of cognition in order to distinguish it from acute beginning or stable disturbance for a long time, which is typical for psychiatric disease

boolean

C0149623 (UMLS CUI [1])
C0338656 (UMLS CUI [2])

socially inappropriate behavior

Item

II. "Possible" bvFTD Three of the symptoms listed in A to F have to be fulfilled. It should be ensured that these symptoms are prominent and persistent and are not rare or even nonrecurring clinical pictures. A. Early onset of behavior disturbance with the symptom "disinhibition" A.1.Socially inappropriate behavior

boolean

C2220010 (UMLS CUI [1])

loss of manners and decency

Item

A.2. Loss of manners and decency

boolean

C0564122 (UMLS CUI [1])

impulsive or reckless behavior

Item

A.3. Impulsive, unreflected or reckless behavior

boolean

C0021125 (UMLS CUI [1])
C0683304 (UMLS CUI [2])

apathy

Item

B. Early onset of symptoms of apathy or inactivity B.1. Apathy

boolean

C0085632 (UMLS CUI [1])

inactivity

Item

B.2. Inactivity

boolean

C3890554 (UMLS CUI [1])

reduced sympathy

Item

C. Early loss of sympathy or empathy (one symptom has to be present) C.1. Reduced sympathy for needs and feelings or other human beings

boolean

C0683287 (UMLS CUI [1,1])
C0392756 (UMLS CUI [1,2])

reduced interest in social contacts or human affection

Item

C.2. Reduced interest in social contacts or human affection

boolean

C0237170 (UMLS CUI [1])
C0424091 (UMLS CUI [2,1])
C0562561 (UMLS CUI [2,2])

repetitive movements

Item

D. Early onset of perservative, stereotypic or compulsive, ritualized behaviour patterns (one of the symptoms has to be present) D.1. Simple repetitive movements

boolean

C3806732 (UMLS CUI [1])

compulsive or ritualized behaviour patterns

Item

D.2. Complex, compulsive executed or ritualized behaviour patterns

boolean

C0600104 (UMLS CUI [1])
C2266670 (UMLS CUI [2])

stereotypes in language

Item

D.3. Stereotypes in language

boolean

C0038271 (UMLS CUI [1,1])
C0037817 (UMLS CUI [1,2])

disturbed preference in choice of food

Item

E. Hyperorality or changes in eating behavior (one of the symptoms has to be present) E.1. Disturbed preference in choice of food

boolean

C2699787 (UMLS CUI [1,1])
C0016483 (UMLS CUI [1,2])

eating orgy or increased consumption of alcohol or cigarettes

Item

E.2. Eating orgy, increased consumption of alcohol or cigarettes

boolean

C1843777 (UMLS CUI [1])
C2169567 (UMLS CUI [2])
C0037369 (UMLS CUI [3,1])
C0205217 (UMLS CUI [3,2])

hyperorality

Item

E.3. Oral exposure behavior or even oral consumption of uneatable objects

boolean

C1838320 (UMLS CUI [1])

disturbance in executive functions

Item

F. Typical neuropsychological profile: Disturbance of executive functions along with relatively intact memory and intact visuoconstructive skills (all symptoms must be present) F.1. Disturbance in executive functions, including complex cognitive functions like working memory, planing, generalization of rules and abstracting of rules, problem solution and mental flexibility

boolean

C2678119 (UMLS CUI [1])

performance of episodic memory

Item

F.2. Relatively intact performance of episodic memory

boolean

C0561843 (UMLS CUI [1])

visuocontructive functions

Item

F.3. Relatively intact performance testing visuocontructive functions

boolean

C3852968 (UMLS CUI [1])

FTD diagnosis

Item

III. "Probable" bvFTD All of the following criteria(A-C) have to be fulfilled for a diagnosis of a probable bvFTD A. Diagnosis criteria of a probable FTD have to be fulfilled

boolean

C0338451 (UMLS CUI [1,1])
C0332148 (UMLS CUI [1,2])

everyday functioning

Item

B. The amount of disturbance causes disturbance in everyday functioning

boolean

C0562507 (UMLS CUI [1])

anterior temporal atrophy

Item

C. Imaging is compatible with the behavioral variant of FTD (one of the two attributes has to be present) C.1. CT or MRI imaging show a frontal and/or anterior temporal atrophy

boolean

C3281302 (UMLS CUI [1])
C0011923 (UMLS CUI [2])

frontal or temporal hypo-perfusion

Item

C.2. PET or SPECT examinations showing frontal and/or temporal hypo-perfusion/hypo-metabolism

boolean

C0442856 (UMLS CUI [1])
C0347938 (UMLS CUI [2])
C1699633 (UMLS CUI [3])
C0183126 (UMLS CUI [4])

FTD criteria fulfilled

Item

IV. bvFTD with ensured FTD-pathology (criterion A and one additional criterion (B or C) have to be fulfilled) A. Criteria of possible or probable FTD fulfilled

boolean

C0338451 (UMLS CUI [1])

histopathological evidence

Item

B. Histopathological evidence for the disease (by biopsy or post mortem)

boolean

C0428093 (UMLS CUI [1])

mutation causing the behavioural variant of FTD

Item

C. Presence of a known mutation which causes the behavioural variant of FTD

boolean

C0596611 (UMLS CUI [1,1])
C0678227 (UMLS CUI [1,2])
C4011788 (UMLS CUI [1,3])

disease pattern better explained by another disease

Item

V. Exclusion criteria for bvFTD A. The pattern of disturbance can be better explained by another (neurodegenerative) disease

boolean

C0449782 (UMLS CUI [1,1])
C0678226 (UMLS CUI [1,2])
C0524851 (UMLS CUI [1,3])
C0205394 (UMLS CUI [1,4])

behavioral disturbances explained by a psychiatric disease

Item

B. The behavioral disturbances can be better explained by a psychiatric disease

boolean

C0233514 (UMLS CUI [1,1])
C0678226 (UMLS CUI [1,2])
C0004936 (UMLS CUI [1,3])

biomarkers emphasize Alzheimers disease or another neurodegenarative disease

Item

C. Biomarkers emphasize Alzheimer's disease or another neurodegenarative disease

boolean

C0005516 (UMLS CUI [1])
C0002395 (UMLS CUI [2,1])
C0524851 (UMLS CUI [2,2])
C0205394 (UMLS CUI [2,3])

Primary progressive aphasia (PPA)

Item Group

Primary progressive aphasia (PPA)

C0282513 (UMLS CUI-1)

PPA diagnosis

Item

Is the patient currently diagnosed with PPA according to the criteria of Mesulam et. al. 2001?

boolean

C0282513 (UMLS CUI [1])

impairment of speech characteristics

Item

1. Gradually starting and slowly progressing impairment in word formation, object naming, syntax or word comprehension in conversation or applying a well-established neuropsychologic speech tests.

boolean

C0233715 (UMLS CUI [1])
C0566058 (UMLS CUI [2])
C0027902 (UMLS CUI [3])
C0513762 (UMLS CUI [4])

restrictions in everylife due to speech impairment

Item

2. All restrictions in everyday life in the first two years after onset of symptoms can be attributed to impairment of speech.

boolean

C0562507 (UMLS CUI [1,1])
C0439801 (UMLS CUI [1,2])
C0678226 (UMLS CUI [1,3])
C0233715 (UMLS CUI [1,4])

intact premobid function of speech

Item

3. The premobid function of speech is intact (a dyslexia during development is possible).

boolean

C0037817 (UMLS CUI [1,1])
C0871122 (UMLS CUI [1,2])
C0205266 (UMLS CUI [1,3])

symtoms missing in first two years

Item

4. A prominent apathy, disinhibition, disturbance of short-term memory, visuo-spatial disturbances, disability of visual recognition and sensomotoric deficits are missing in the first two years of disease in consideration of anamnesis, everyday activities or neuropsychologic results, so that the participant fulfills no diagnostic criteria of another dementia.

boolean

C0085632 (UMLS CUI [1,1])
C0332197 (UMLS CUI [1,2])
C0234410 (UMLS CUI [2,1])
C0332197 (UMLS CUI [2,2])
C2363813 (UMLS CUI [3,1])
C0332197 (UMLS CUI [3,2])
C2676705 (UMLS CUI [4,1])
C0332197 (UMLS CUI [4,2])
C0030709 (UMLS CUI [5,1])
C0332197 (UMLS CUI [5,2])
C0221163 (UMLS CUI [6,1])
C0332197 (UMLS CUI [6,2])

dyscalculia, ideomotoric apraxia and problems tracing

Item

5. Dyscalculia, ideomotoric apraxia and problems tracing can be present in the first two years of disease. However these are not developed so that everyday activities are influenced.

boolean

C0869474 (UMLS CUI [1])
C0234523 (UMLS CUI [2])
C0565772 (UMLS CUI [3])

other cognitive functions

Item

6. Other cognitive functions can be affected after the first two years after disease, but speech remains the strongest impaired function during the whole course of disease and declines faster than every other function.

boolean

C0392335 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0037817 (UMLS CUI [2,1])
C0242656 (UMLS CUI [2,2])
C1838681 (UMLS CUI [2,3])

other reasons for aphasia excluded

Item

7. Other reasons for aphasia like stroke or tumor are excluded by imaging.

boolean

C2828389 (UMLS CUI [1,1])
C0015127 (UMLS CUI [1,2])
C0003537 (UMLS CUI [1,3])

Progressive nonfluent aphasia (PNFA)

Item Group

Progressive nonfluent aphasia (PNFA)

C0751706 (UMLS CUI-1)

PNFA diagnosis

Item

Is the patient currently diagnosed with PNFA according to the criteria of Gorno-Tempini et. al. 2011?

boolean

C0751706 (UMLS CUI [1])

agrammatism

Item

I. Clinical diagnosis of PNFA At least one of the diagnostic main criteria has to be fulfilled: 1. Speech with agrammatism

boolean

C0242186 (UMLS CUI [1])

speech apraxia

Item

2. Labored, haltingly speech with inconsistent prosody and speech attitudes (speech apraxia)

boolean

C0264611 (UMLS CUI [1])

speech intelligibility disturbances

Item

At least two of the following features have to be fulfilled: 1. Speech intelligibility disturbances formulating sentences with complex syntax

boolean

C0037824 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])

speech intelligibility

Item

2. Maintained speech intelligibility of single words

boolean

C0037824 (UMLS CUI [1])

object knowledge

Item

3. Maintained object knowledge

boolean

C0599621 (UMLS CUI [1])

clinical diagnosis of PNFA

Item

II. Imaging results supporting diagnosis of PNFA Both criteria have to be fulfilled 1. Clinical diagnosis of PNFA

boolean

C0332140 (UMLS CUI [1,1])
C0751706 (UMLS CUI [1,2])

atrophy in posterior part of frontal lobe in MRI

Item

2. Imaging diagnostics have to show one of the following findings: 2a. MRI: Emphasized atrophy in posterior part of frontal lobe/island region of left hemisphere

boolean

C0016733 (UMLS CUI [1,1])
C0205095 (UMLS CUI [1,2])
C0228176 (UMLS CUI [2,1])
C3496404 (UMLS CUI [2,2])
C0024485 (UMLS CUI [3])
C0333641 (UMLS CUI [4])

hypoperfusion and hypometabolism in posterior part of frontal lobe

Item

2b. SPECT/PET: Emphasized hypoperfusion and hypometabolism in posterior part of frontal lobe/insular region of left hemisphere

boolean

C0442856 (UMLS CUI [1])
C0347938 (UMLS CUI [2])
C1699633 (UMLS CUI [3])
C0183126 (UMLS CUI [4])
C0016733 (UMLS CUI [5,1])
C0205095 (UMLS CUI [5,2])
C0228176 (UMLS CUI [6,1])
C3496404 (UMLS CUI [6,2])

clinical diagnosis PNFA

Item

III. Diagnostic criteria for PNFA and clear histopathologic finding The clinical diagnosis (criterion 1) an criterion 2 or criterion 3 have to be fulfilled: 1. Clinical diagnosis of PNFA

boolean

C0332140 (UMLS CUI [1,1])
C0751706 (UMLS CUI [1,2])

neurodegenarative pathology

Item

2. Histopathological evidence of a specific neurodegenerative pathology (e.g. FTD-tau, FTD-TDP, AD or another specific pathology)

boolean

C0524851 (UMLS CUI [1,1])
C0243140 (UMLS CUI [1,2])

mutation

Item

3. Evidence of a common mutation

boolean

C0026882 (UMLS CUI [1])

Logopenic progressive aphasia (LPA)

Item Group

Logopenic progressive aphasia (LPA)

C0282513 (UMLS CUI-1)
C0037825 (UMLS CUI-2)

diagnosis of LPA

Item

Is the patient currently diagnosed with LPA according to the criteria of Gorno-Tempini et. al. 2011 and Raskovsky et. al. 2011?

boolean

C0282513 (UMLS CUI [1,1])
C0037825 (UMLS CUI [1,2])

disturbed sponteneous speech

Item

I. Clinical diagnosis of LPA: Both diagnostic main criteria have to be fulfilled: 1. Disturbed ability to fetch words in sponteneous speech and in naming

boolean

C0855217 (UMLS CUI [1])

disturbed repetition of sentences

Item

2. Repeating of sentences and sentence elements disturbed

boolean

C0233741 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])
C0233740 (UMLS CUI [2,1])
C0221099 (UMLS CUI [2,2])

phonologic paraphrasia

Item

At least 3 of the following characteristics have to be fulfilled: 1. Phonologic paraphrasia in spontaneous speech and naming

boolean

C0233722 (UMLS CUI [1])
C0454640 (UMLS CUI [2])

speech intelligibility and object knowledge

Item

2. Maintained speech intelligibility of single words and object knowledge

boolean

C0037824 (UMLS CUI [1])
C0599621 (UMLS CUI [2])

motor speech

Item

3. Maintained motor speech (no speech apraxia)

boolean

C4035655 (UMLS CUI [1])

no distinctive agrammatism

Item

4. No distinctive agrammatism

boolean

C0242186 (UMLS CUI [1,1])
C0332197 (UMLS CUI [1,2])

clinical diagnosis of LPA

Item

I. Diagnosis of LPA supported by imaging Both of the following criteria have to be fulfilled 1. Clinical diagnosis of LPA

boolean

C0332140 (UMLS CUI [1,1])
C0282513 (UMLS CUI [1,2])
C0037825 (UMLS CUI [1,3])

atrophy in posterior sections of perisylvian area or parietal atrophy

Item

2. Imaging diagnostics have to show one or several of the following findings: 2a. MRI: Emphasized atrophy in posterior sections of perisylvian area or parietal atrophy

boolean

C0333641 (UMLS CUI [1,1])
C3495412 (UMLS CUI [1,2])
C4023041 (UMLS CUI [2])
C0024485 (UMLS CUI [3])

hypoperfusion and hypometabolism in a section of perisylvian area or parietal lobe

Item

2b. SPECT/PET: Emphasized hypoperfusion and hypometabolism in a section of perisylvian area or parietal lobe

boolean

C0442856 (UMLS CUI [1])
C0347938 (UMLS CUI [2])
C1699633 (UMLS CUI [3])

clinical diagnosis LPA

Item

II. Diagnostic criteria for LPA and clear histopathologic finding The clinical diagnosis (criterion 1) and criterion 2 or criterion 3 have to be fulfilled: 1. Clinical diagnosis of LPA

boolean

C0332140 (UMLS CUI [1,1])
C0282513 (UMLS CUI [1,2])
C0037825 (UMLS CUI [1,3])

histopathological evidence of a specific neurodegenerative pathology

Item

2. Histopathological evidence of a specific neurodegenerative pathology (e.g. FTD-tau, FTD-TDP, AD or another specific pathology)

boolean

C0524851 (UMLS CUI [1,1])
C0243140 (UMLS CUI [1,2])

evidence of mutation

Item

3. Evidence of a common mutation

boolean

C0026882 (UMLS CUI [1])

Semantic dementia (SemD)

Item Group

Semantic dementia (SemD)

C0338462 (UMLS CUI-1)

diagnosis of SemD

Item

Is the patient currently diagnosed with SemD according to the criteria of Gorno-Tempini et. al. 2011?

boolean

C0338462 (UMLS CUI [1])

anomia

Item

I. Clinical diagnosis of SemD: Both diagnostic main criteria have to be fulfilled: 1. Disturbed behavior (anomia)

boolean

C0003113 (UMLS CUI [1])

disturbed speech intelligibility

Item

2. Disturbed speech intelligibility of single words

boolean

C0037824 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])

disturbed object knowledge

Item

At least three of the following characteristics have to be fulfilled: 1. Disturbed object knowledge, especially of words which are rarely used or have a lower familiarity

boolean

C0599621 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])

dyslexia or agraphia

Item

2. Dyslexia or agraphia

boolean

C0476254 (UMLS CUI [1])
C0001825 (UMLS CUI [2])

undisturbed repetition

Item

3. Undisturbed repetition

boolean

C0589243 (UMLS CUI [1])

fluent production of speech

Item

4. Maintained fluent production of speech (grammatically correct and without apraxic disorders)

boolean

C0564240 (UMLS CUI [1])

clinical diagnosis of SemD

Item

II. Imaging results supporting diagnosis of SemD: Both of the following criteria have to be fulfilled 1. Clinical diagnosis of SemD

boolean

C0332140 (UMLS CUI [1,1])
C0338462 (UMLS CUI [1,2])

atrophy in anterior part of frontal lobe

Item

2. Imaging diagnostics have to show one of the following findings: 2a. MRI: Emphasized atrophy in anterior part of frontal lobe

boolean

C0333641 (UMLS CUI [1,1])
C0016733 (UMLS CUI [1,2])
C0205094 (UMLS CUI [1,3])
C0024485 (UMLS CUI [2])

hypoperfusion and hypometabolism in anterior part of frontal lope

Item

2b. SPECT/PET: Emphasized hypoperfusion and hypometabolism in anterior part of frontal lope

boolean

C0442856 (UMLS CUI [1])
C0347938 (UMLS CUI [2])
C1699633 (UMLS CUI [3])
C0016733 (UMLS CUI [4,1])
C0205094 (UMLS CUI [4,2])

clinical diagnosis SemD

Item

III. Diagnostic criteria for SemD and clear histopathologic finding 1. Clinical diagnosis of SemD

boolean

C0332140 (UMLS CUI [1,1])
C0338462 (UMLS CUI [1,2])

neurodegenarative pathology

Item

2. Histopathological evidence of a specific neurodegenerative pathology (e.g. FTD-tau, FTD-TDP, AD or another specific pathology)

boolean

C0524851 (UMLS CUI [1,1])
C0243140 (UMLS CUI [1,2])

mutation

Item

3. Evidence of a common mutation

boolean

C0026882 (UMLS CUI [1])

Idiopathic Parkinson's disease (IPS)

Item Group

Idiopathic Parkinson's disease (IPS)

C0030567 (UMLS CUI-1)

IPS diagnosis

Item

Is the patient currently diagnosed with IPS according to the UKBB criteria (Litvan et. al. 2003)?

boolean

C0030567 (UMLS CUI [1])

hypo-bradykinesia

Item

Hypo-bradykinesia

boolean

C3176307 (UMLS CUI [1])

resting tremor

Item

Resting tremor

boolean

C0234379 (UMLS CUI [1])

rigor

Item

Rigor

boolean

C0026837 (UMLS CUI [1])

postural instability

Item

Postural instability

boolean

C1843921 (UMLS CUI [1])

unilateral onset

Item

Unilateral onset

boolean

C0332162 (UMLS CUI [1,1])
C0205092 (UMLS CUI [1,2])

resting tremor manifest

Item

Resting tremor manifest

boolean

C0234379 (UMLS CUI [1,1])
C0205319 (UMLS CUI [1,2])

progressive course of disease

Item

Progressive course of disease

boolean

C0242656 (UMLS CUI [1,1])
C0205329 (UMLS CUI [1,2])

laterality

Item

Laterality

boolean

C0332304 (UMLS CUI [1])

response to L-Dopa

Item

Excellent response to L-Dopa (70-100%)

boolean

C3280274 (UMLS CUI [1])

L-Dopa induced chorea

Item

L-Dopa induced chorea

boolean

C0008489 (UMLS CUI [1,1])
C0678226 (UMLS CUI [1,2])
C0023570 (UMLS CUI [1,3])

response to L-Dopa over 5 years

Item

Response to L-Dopa over 5 years

boolean

C3280274 (UMLS CUI [1])

response to L-Dopa over 10 years

Item

Response to L-Dopa over 10 years

boolean

C3280274 (UMLS CUI [1])

medical history of brain damage

Item

Medical history of brain damage (e.g. stroke, craniocerebral trauma)

boolean

C0262926 (UMLS CUI [1,1])
C0270611 (UMLS CUI [1,2])

medical history of encephalitis

Item

Medical history of encephalitis

boolean

C0014038 (UMLS CUI [1])

oculogyric crisis

Item

Oculogyric crisis

boolean

C0085637 (UMLS CUI [1])

neuroleptic drugs at onset of disease

Item

Therapy using neuroleptic drugs at onset of disease

boolean

C0040615 (UMLS CUI [1,1])
C0277793 (UMLS CUI [1,2])

remission of disease

Item

Remission of disease

boolean

C0544452 (UMLS CUI [1])

unilateral motor impairment

Item

Unilateral motor impairment after 3 years of disease

boolean

C0221163 (UMLS CUI [1,1])
C0205092 (UMLS CUI [1,2])

supranuclear palsy

Item

Supranuclear palsy

boolean

C1720037 (UMLS CUI [1])

cerebellar signs

Item

Cerebellar signs

boolean

C0742038 (UMLS CUI [1])

severe autonomous dysfunction

Item

Severe autonomous dysfunction (e.g. urinary incontinence, cardiovascular system problem)

boolean

C1397846 (UMLS CUI [1,1])
C0205082 (UMLS CUI [1,2])

early development of dementia

Item

Early development of dementia (within first year of disease) with special impairment of memory, speech and in practice

boolean

C1833334 (UMLS CUI [1,1])
C0497327 (UMLS CUI [1,2])

babinski sign

Item

Babinski sign

boolean

C0034935 (UMLS CUI [1])

poor response to L-Dopa

Item

Poor response to L-Dopa

boolean

C2751071 (UMLS CUI [1])

MTPT exposition

Item

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MTPT) exposition

boolean

C0046312 (UMLS CUI [1])

Morbus parkinson along with MCI (PD-MCI)

Item Group

Morbus parkinson along with MCI (PD-MCI)

C0030567 (UMLS CUI-1)
C1270972 (UMLS CUI-3)

PD-MCI diagnosis

Item

Is the patient currently diagnosed with PD-MCI according to the criteria Litvan et. al. 2012?

boolean

C0030567 (UMLS CUI [1])
C1270972 (UMLS CUI [2])

Parkinson disease according to UKPD BB criteria

Item

Diagnosis of Parkinson disease according to UKPD BB criteria

boolean

C0030567 (UMLS CUI [1,1])
C0679228 (UMLS CUI [1,2])

insidious onset and progressive course of disease of cognitive dysfunction

Item

Insidious onset and progressive course of disease of cognitive dysfunction under PD disease reported by participant, relatives and treating physician

boolean

C0338656 (UMLS CUI [1,1])
C1298634 (UMLS CUI [1,2])
|C0338656 (UMLS CUI [1,3])
C0242656 (UMLS CUI [1,4])
C0205329 (UMLS CUI [1,5])

loss of power

Item

Loss of power (<=1.5 times standard deviation below the mean value of reference group) in (A) two assessments of a domain or (B) in each assessment of two different domains. Following domains can be affected: -attention & working memory -executive functions -visuo-constructive/visuospatial performance -memory -speech

boolean

C0548863 (UMLS CUI [1])

cognitive deficits do not interfere everyday activities

Item

Cognitive deficits do not interfere with lost of independence regarding everyday activities, although mild impairment may occur performing complex tasks

boolean

C0009241 (UMLS CUI [1,1])
C0521103 (UMLS CUI [1,2])
C0001288 (UMLS CUI [1,3])

Parkinson disease in dementia

Item

Parkinson disease with dementia according to criteria of Movement Disorder Society Task Force

boolean

C0349081 (UMLS CUI [1])

diseases that can explain cognitive impairment

Item

Diseases that can explain cognitive impairment primarily (e.g. delir, stroke, traumatic brain injury, metabolic disorder, side effects of medication, severe depressive episode)

boolean

C0009241 (UMLS CUI [1,1])
C0678226 (UMLS CUI [1,2])
C0009488 (UMLS CUI [1,3])

comorbidities influence on test performance

Item

Other PD associated comorbidities like severe motor impairment, high anxiety, depression,increasing daytime sleepiness, psychosis, which have a significant influence on test performance according to a clinician's opinion.

boolean

C0009488 (UMLS CUI [1,1])
C0521102 (UMLS CUI [1,2])
C0679605 (UMLS CUI [1,3])

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DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Diagnostic Criteria

CRF Diagnostic Criteria

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