Demenze

Question 1

General findings

Answer 1

An acquired disorder of cognitive function that is commonly characterized by impairments in memory, speech, reasoning, intellectual function, and/or spatial-temporal awareness.

Most common cause , Alzheimer
Second most common cause, Demenza vascolare
Third : Demenza a copri di Lewy

Question 2

Pseudodemenza

Answer 2

An important differential diagnosis is pseudodementia, which is primarily associated with cognitive deficits in older patients with depression. In contrast to dementia patients, individuals suffering from pseudodementia can often recall the onset of their cognitive impairments, exaggerate their symptoms, and are remarkably responsive to treatment with antidepressants.

Question 3

Eziologia

Answer 3

Neurodegenerative brain diseases

• Alzheimer disease (> 50% of dementia cases)
• Parkinson disease
• Frontotemporal dementia
• Dementia with Lewy bodies
• Progressive supranuclear palsy
• Huntington disease
• Additional causes
• Cerebrovascular disease (20% of dementia cases)
• Multi-infarct dementia
• Diffuse white matter disease (subcortical arteriosclerotic encephalopathy)
• Hypoxic brain damage
• Normal pressure hydrocephalus
• After head trauma, intracranial bleeding or brain tumors
• Drug/alcohol‑related (e.g., Wernicke‑Korsakoff syndrome)
• Wilson disease
• Vitamin deficiencies (thiamine, B6, B12, folate)
• Metabolic: exsiccosis, uremia, electrolyte imbalances, hypothyroidism and hyperthyroidism, hypoparathyroidism, and hyperparathyroidism
• Environmental toxins
• Inflammatory/infectious
  
  1. Syphilis
  2. Progressive multifocal leukoencephalopathy
  3. HIV
• Creutzfeldt-Jakob disease (progressione rapida)

Question 4

Clinica

Answer 4

-Memory impairment! (lesione ipotalamo)

Additional cognitive impairment

• Speech: aphasia, word-finding difficulties, semantic paraphasia
• Intellectual capacities, reasoning, planning capabilities, and self-control
• Spatial-temporal awareness (however, the awareness of oneself remains stable for a long time)
• Apathy
• Changes in personality, mood, and behavior
• Early stages: depression
• Later stages: seemingly unconcerned mood and cognitive impairment is downplayed

Question 5

Criteri diagnostici secondo DSM5

Answer 5

Significant cognitive decline in at least one of the following domains
Learning and memory
Language
Executive function
Complex attention
Perceptual-motor
Social cognition
Cognitive deficits interfere with everyday life, patient becomes dependent on help with complex activities (e.g., paying bills)
Cognitive deficits do not occur exclusively in the context of a delirium
Cognitive deficits are not better explained by another mental disorder (e.g., major depression)

Question 6

Mini-Mental State Examination (27-30 è deterioramento cognitivo)
da 24 punti in giù è demenza

Clock-drawing test spesso utilizzato in associazione

Answer 6

Definition: a screening tool that assesses the degree of cognitive impairment in individuals with suspected dementia
Diagnostic criteria
A maximum of 30 points is possible
A patient who scores 24 points or less is generally considered to have dementia.
20–24 points: mild dementia
13–20 points: moderate dementia
< 13 points: advanced dementia

• orientamento
• linguaggio (sia comprensione di comandi scritti che dovrà eseguire sia ripetere frasi )
• memoria
• ripetizione
• attenzione e calcolo

Question 7

Montreal Cognitive Assessment

Answer 7

Definition: a screening tool that assesses cognitive impairment
Includes testing of memory, visuospatial ability (e.g., by drawing a clock and copying a drawing of a cube), executive function, attention, language, abstraction (e.g., identifying similarity between a train and a bicycle), recall, and orientation to time and place.
Diagnostic criteria
A maximum of 30 points is possible
18–25 points: mild cognitive impairment
10–17 points: moderate cognitive impairment
< 10 points: severe cognitive impairment

Question 8

LAB

Answer 8

-In all patients: screening for vitamin B12 deficiency (cobalamin) and hypothyroidism

• Ceruloplasmin: decreased in Wilson disease (may be associated with symptoms of dementia)
• ApoE genotyping
• Lumbar puncture and CSF analysis (only in selected patients with suggestive clinical features or other abnormal tests)
• To reveal CNS infection/inflammation (e.g., in meningitis or encephalitis)

Question 9

Alzheimer

Answer 9

1. Slowly progressive, over ∼ 8–10 years
2. Episodic impairment of memory
3. Characteristic order of language impairment: naming → comprehension → fluency
4. AD is a clinical diagnosis

5.Diffuse cortical atrophy
6.Hippocampal atrophy
7.CSF
↓ Beta amyloid (si accumula a livello cerebrale)
↑ Phosphorylated tau

• Neuritic plaques (amyloid beta peptides, mainly accumulating extracellularly)
• Neurofibrillary tangles (abnormally phosphorylated tau protein, which accumulates intracellularly)

Question 10

Demenza vascolare (corticali o sub corticali)

Answer 10

1. May present with abrupt cognitive decline and stepwise deterioration
2. Asymmetric or focal deficits (e.g., hemiparesis)
3. CT/MRI usually shows lacunar infarcts
4. precedenti episodi cerebro-vascolari

Question 11

Copri di Lewy (deterioramente fronto-subcorticale)

alpha sinucleina

Answer 11

1. Steady decline; typically over ∼ 8–10 years but more rapid progression is possible
2. Visual hallucinations and parkinsonian motor disorders (con scarso tremore e scarsa risposta alla L-dopa) NB
3. Attention impairment
4. SPECT: may reveal decreased occipital perfusion/metabolism!
5. Lewy bodies (intracellular aggregations of mainly α-Synuclein)

Question 12

Demenza fronto-temporale (Pick)

Answer 12

1. Usually manifests between ages 40–69
2. Behavioral variant FTD (most common) → early changes in personality, apathy
3. CSF: ↑ Aβ 1–42
4. PET or SPECT to reveal metabolic disorders in the frontal and temporal lobes
5. Focal cortical atrophy

Ci sono casi associati a presenza di proteina tau e casi senza. La malattia di Pick rientra nel primo gruppo e presenta sia le cellule che i corpi di Pick, cioè inclusioni intracitoplasmatiche di tau. Si differenzia dall’Alzheimer perchè :

1. l’esordio è precoce, e inoltre i sintomi più evidenti sono l’alterazione della personalità e del comportamento rispetto al deficit memorico, fino all’apatia
2. il linguaggio può essere colpito precocemente, a volte è il primo sintomo
3. è sia corticale che sub corticale
4. Non ci sono ne tangles ne placche senili, ma solo inclusioni di tau

Question 13

Normal pressure hydrocephalus (NPH)

Answer 13

1.Potentially reversible

2. Classic clinical triad
   - Gait disorder
   - Dementia
   - Urinary incontinence

3.CT/MRI: relative dilatation of ventricles with periventricular hyperintensities

4. Lumbar puncture alleviates symptoms
5. Unspecific cerebral atrophy

Question 14

Wernicke encephalopathy (WE) &
Wernicke-Korsakoff syndrome

Answer 14

1.Potentially reversible (deficit Tiamina)

2. WE (classic clinical triad)
   - Confusion
   - Ataxia (importante)
   - Ophthalmoplegia

WKS

• Severe anterograde and retrograde amnesia, apathy, confusion, anosognosia
• Other cognitive capacities remain comparatively intact.! NB
• No specific laboratory test or imaging study is available to definitively rule out Wernicke encephalopathy or Wernicke-Korsakoff syndrome
• Acute WE: gliosis, inflammation, and/or necrosis, particularly in periventricular structures (e.g., the medial thalamus)
• Chronic WE/WKS: atrophy of the mamillary bodies

Question 15

SINUCLEINOPATIE

Answer 15

1. Parkinson idiopatico
2. Atrofia multisistemica (esordio con tremore e alterazioni autonomiche e atassia, no decadimento cognitivo)
3. Demenza a corpi di Lewy (deterioramento cognitivo rapido)

Question 16

TAUOPATIE

Answer 16

1. Alzheimer
2. Demenza fronto temporale (PICK, esordio a 50 anni con alterazioni del comportamento senza i tipici disturbi mnesici e alterazioni del linguaggio)
3. Paralisi sopranucleare progressiva (paralisi verticalità sguardo, bradicinesia simmetrica, deterioramento cognitivo rapido)

Question 17

Parkinsonismi

Answer 17

1. paralisi sopranucleare progressiva
2. atrofia multisistemica
3. demenza corpi di Lewy
4. degenerazione cortico basale

Question 18

SCENARIO Paziente affetto da demenza a corpi di Lewy. DOMANDA Quale dei seguenti non è un sintomo comune della demenza a corpi di Lewy?

	Frequenti fluttuazioni
	Parkinsonismo rigido acinetico
	Allucinazioni
	Decadimento cognitivo
	✔Disautonomia

Answer 18

La demenza a corpi di Lewy è una forma di Parkinsonismo che causa decadimento cognitivo, allucinazioni, agitazione, risposta paradossa agli antipsicotici. Possono essere presenti sintomi disautonomici, ma fra le varie opzioni, sono sicuramente i meno caratteristici.

Question 19

SCENARIO Paziente di 65 anni giunge in ambulatorio per sensazione di impaccio a carico dell’arto superiore destro, ad insorgenza subacuta da circa 5 mesi. Mostra anche segni di aprassia gestuale ed ideomotoria. Riferisce che l’arto superiore destro compie spesso movimenti involontari e assume posture bizzarre. DOMANDA Qual è la possibile diagnosi?

	✔Degenerazione cortico basale
	Paralisi sopranucleareprogressiva
	Atrofia multisistemica
	Parkinson
	Demenza a corpi di Lewy

Answer 19

La degenerazione cortico-basale è una sindrome caratterizzata da aprassia, arto alieno e decadimento cognitivo.

Classificata come parkinsonismo primario.