Clinical Dementia

Last Minute Review

Dementia — Last Minute Review

A last-minute review of high-yield facts — dense tables and one-liners for RITE/Board prep. Not a substitute for the full notes.
Major Dementias — Head-to-Head Comparison
Feature AD DLB FTD (bvFTD) VaD
Age Onset >65 (sporadic); 30–60 (familial) >50 45–65 >60
Presenting Symptom Episodic memory loss (encoding deficit) Visual hallucinations, fluctuating cognition, RBD Personality change, disinhibition, apathy Stepwise cognitive decline, executive dysfunction
Memory Early, prominent (encoding failure — poor recognition) Less impaired early; retrieval deficit (recognition better) Relatively preserved early Retrieval deficit; recognition > recall
Behavior Apathy, depression; late agitation/sundowning Depression, apathy, anxiety, Capgras delusion Disinhibition, compulsions, hyperorality, loss of empathy Apathy, depression, pseudobulbar affect
Hallucinations Late, if present Recurrent, well-formed visual (core feature) Rare Rare
Motor Features Normal until late Spontaneous parkinsonism (symmetric); RBD; falls Parkinsonism late; may overlap CBS/PSP/MND Focal signs, gait disorder, pseudobulbar palsy
EEG Generalized slowing (nonspecific) Fluctuating generalized slowing; posterior slow waves Usually normal early Focal slowing (if infarct)
MRI Hippocampal/medial temporal atrophy; posterior parietal Relative hippocampal preservation vs AD; generalized atrophy Frontal + anterior temporal atrophy (often asymmetric) White matter lesions, lacunes, strategic infarcts
PET/SPECT FDG: temporoparietal hypometabolism; amyloid PET +; tau PET + FDG: occipital hypometabolism; DAT scan ↓ uptake FDG: frontal/anterior temporal hypometabolism Patchy hypometabolism matching vascular territory
CSF Aβ42 ↓, p-tau ↑, t-tau ↑ May have low Aβ42 (co-AD pathology); α-synuclein SAA emerging Neurofilament light ↑; no specific marker No specific fluid biomarker
Pathology Aβ42 plaques + hyperphosphorylated tau NFTs (3R+4R) α-synuclein Lewy bodies (cortical + brainstem) Tau (3R or 4R) or TDP-43 Vascular injury ± mixed AD pathology
Genetics PSEN1 (14), APP (21), PSEN2 (1); APOE ε4 risk GBA, SNCA (rare); APOE ε4 risk factor C9orf72, MAPT, GRN NOTCH3 (CADASIL); HTRA1 (CARASIL)
Treatment AChE inhibitors, memantine, lecanemab (anti-amyloid) Rivastigmine; avoid typical antipsychotics; melatonin for RBD SSRIs (trazodone); no disease-modifying therapy Vascular risk factor management; AChE inhibitors (modest)
💎 Board Pearl
The encoding deficit in AD (poor recognition AND recall) distinguishes it from the retrieval deficit in DLB/VaD/subcortical dementias (recognition preserved, recall impaired). This is a classic board differentiator.
FTD Variants
Variant Core Features Language Behavior Atrophy Pattern Pathology Genetics
bvFTD Early personality change, disinhibition, apathy, loss of empathy, hyperorality, executive dysfunction Echolalia, perseveration (late) Prominent from onset: disinhibition, compulsions, social inappropriateness Frontal + anterior temporal (often asymmetric) Tau (3R or 4R) or TDP-43 C9orf72 (TDP-43); MAPT (tau); GRN (TDP-43)
nfvPPA (nonfluent/agrammatic) Effortful, halting, agrammatic speech; apraxia of speech Nonfluent; grammar errors; comprehension preserved for single words Intact early Left posterior frontal / insular (perisylvian) Tau (4R — CBD/PSP-type) Usually sporadic; occasional MAPT
svPPA (semantic) Loss of word meaning; surface dyslexia; prosopagnosia (right-sided) Fluent but empty speech; anomia; lost single-word comprehension Behavioral changes late (overlap bvFTD) Left anterior temporal “knife-edge” atrophy TDP-43 (Type C) Rarely familial
lvPPA (logopenic) Word-finding pauses; phonemic paraphasias; impaired sentence repetition Slow, hesitant; intact grammar; intact single-word comprehension Intact early Left posterior temporal / inferior parietal AD pathology (Aβ + tau) in most cases AD genetics (APOE ε4 risk)
FTD-ALS/MND bvFTD + upper and lower motor neuron signs; poor prognosis (2–3 yr) Variable bvFTD-type behavioral changes Frontal atrophy + motor cortex involvement TDP-43 C9orf72 (most common genetic link FTD–ALS)
Abbreviations: bvFTD = behavioral variant frontotemporal dementia; nfvPPA = nonfluent/agrammatic variant primary progressive aphasia; svPPA = semantic variant PPA; lvPPA = logopenic variant PPA; FTD-ALS/MND = FTD with amyotrophic lateral sclerosis/motor neuron disease; CBS = corticobasal syndrome; PSP = progressive supranuclear palsy
💎 Board Pearl
lvPPA is the “language phenotype of AD” — most cases have underlying amyloid + tau pathology, unlike nfvPPA (tau) and svPPA (TDP-43). Memory aid: svPPA = TDP, nfvPPA = tau, lvPPA = AD.
Alzheimer Disease — Genetics & Biomarkers

AD Genetics

Gene Chromosome Inheritance Mechanism
APP 21 Autosomal dominant Amyloid precursor protein; Down syndrome (trisomy 21) → extra APP copy → AD by age 40–50
PSEN1 14 Autosomal dominant Most common cause of familial early-onset AD; γ-secretase subunit; onset 30–50 yr; most aggressive
PSEN2 1 Autosomal dominant Rarest familial form; γ-secretase subunit; variable onset 40–70 yr
APOE ε4 19 Risk factor (NOT deterministic) Strongest genetic risk factor for sporadic AD; ε4/ε4 = 8–15× risk; ε2 is protective
TREM2 6 Risk factor Microglial receptor; variants impair amyloid clearance; ~2–4× risk (similar to single ε4 allele)

AD Biomarkers

Biomarker AD Pattern Interpretation
CSF Aβ42 Decreased Trapped in plaques; Aβ42/40 ratio more accurate than Aβ42 alone
CSF p-tau (181, 217) Increased Specific for AD tau pathology; p-tau 217 emerging as most accurate single fluid biomarker
CSF t-tau Increased Nonspecific marker of neuronal injury (also ↑ in CJD, stroke)
Amyloid PET (florbetapir, florbetaben, flutemetamol) Positive (cortical uptake) Highly sensitive; negative amyloid PET essentially rules out AD
Tau PET (flortaucipir) Positive (temporal → parietal spread) Correlates with clinical severity; follows Braak staging pattern
FDG-PET Temporoparietal hypometabolism Posterior cingulate involved early; occipital cortex spared (unlike DLB)
MRI Hippocampal / medial temporal atrophy Posterior parietal atrophy in posterior cortical atrophy variant
Plasma p-tau 217 Increased Blood-based biomarker; high accuracy for AD diagnosis; clinical adoption growing
💎 Board Pearl
The AT(N) framework defines AD biologically: A+ (amyloid positive) is required to be on the Alzheimer continuum. A+T+N+ = full AD pathological change. A− = not AD, regardless of T or N status.
Rapidly Progressive Dementias
Disorder Time Course Key Features Diagnostic Test Pathology
sCJD Weeks–months; median survival ~5 months RPD + myoclonus + ataxia → akinetic mutism DWI cortical ribboning; CSF RT-QuIC; EEG PSWCs; 14-3-3 PrPSc; spongiform change
vCJD Months; median ~14 months Young (~28 yr); psychiatric onset → ataxia → dementia; no PSWCs on EEG MRI pulvinar sign; tonsil biopsy; methionine homozygosity codon 129 PrPSc; florid plaques
FFI 6–36 months Intractable insomnia + autonomic dysfunction + dementia PRNP D178N + Met at codon 129; FDG-PET thalamic hypometabolism Selective thalamic degeneration
GSS 2–10 years (slow for prion) Cerebellar ataxia first, dementia later PRNP mutations (P102L most common) Multicentric amyloid plaques
Anti-NMDAR encephalitis Weeks–months (treatable) Young woman; psychiatric onset → seizures → movement disorder → autonomic instability → coma CSF anti-NMDAR antibodies; ovarian teratoma in ~50% of women Antibody-mediated; reversible with treatment
Anti-LGI1 encephalitis Weeks–months (treatable) Older adult; faciobrachial dystonic seizures; limbic encephalitis; hyponatremia Serum anti-LGI1 antibodies (serum > CSF sensitivity) Antibody-mediated; reversible
Anti-Hu (ANNA-1) Weeks–months Limbic encephalitis + sensory neuropathy; SCLC (small cell lung cancer) Anti-Hu antibodies (serum + CSF); CT chest for SCLC Intracellular antibody; poor response to immunotherapy; tumor Rx critical
Anti-CV2/CRMP5 Weeks–months Encephalomyelitis, chorea, neuropathy, optic neuritis; SCLC/thymoma Anti-CV2/CRMP5 antibodies Intracellular antibody; treat underlying tumor
Hashimoto encephalopathy (SREAT) Subacute; fluctuating course Encephalopathy + seizures + myoclonus + tremor; may mimic CJD Elevated anti-TPO/anti-Tg; diagnosis of exclusion; steroid-responsive Unclear mechanism; not thyroid-related
Whipple disease Chronic → subacute Diarrhea, arthralgias, weight loss + cognitive decline; oculomasticatory myorhythmia (pathognomonic) Small bowel biopsy: PAS+ macrophages; CSF T. whipplei PCR Tropheryma whipplei infection
💎 Board Pearl
CJD diagnostic triad: (1) DWI cortical ribboning + caudate/putamen on MRI, (2) RT-QuIC in CSF (most specific, ~98%), (3) periodic sharp wave complexes on EEG. RT-QuIC has replaced 14-3-3 as the CSF test of choice. ~20–25% of RPDs have a treatable cause — always send autoimmune encephalitis panels.
Prion Diseases
Disease Prion Protein Key Feature EEG MRI Age / Course
sCJD Spontaneous PrPC → PrPSc; 85–90% of CJD RPD + myoclonus + ataxia → akinetic mutism PSWCs (60–70%) DWI cortical ribboning + caudate/putamen 55–75 yr; ~5 months median survival
fCJD PRNP mutations (E200K most common); autosomal dominant; 10–15% of CJD Similar to sCJD; younger onset; may have longer course PSWCs (variable) Similar to sCJD Younger than sCJD; variable course
vCJD BSE (“mad cow”) transmission; PrPSc Psychiatric onset → ataxia → dementia; methionine homozygosity codon 129 PSWCs absent Pulvinar sign (bilateral pulvinar FLAIR hyperintensity) Mean ~28 yr; ~14 months survival
FFI PRNP D178N + methionine at codon 129 Intractable insomnia + autonomic dysfunction (hyperthermia, tachycardia) Absent sleep spindles; progressive loss of sleep architecture FDG-PET: thalamic hypometabolism; MRI often normal early 40–60 yr; 6–36 months
GSS PRNP mutations (P102L most common); autosomal dominant Cerebellar ataxia first, dementia later (“slow prion disease”) Usually nonspecific Cerebellar atrophy 40–60 yr; 2–10 years (much slower than sCJD)
Kuru Ritualistic cannibalism (Fore tribe, Papua New Guinea) “Trembling with fear” — cerebellar ataxia → dementia Nonspecific Cerebellar atrophy Historical; essentially extinct
Clinical Pearl
Do NOT confuse sCJD and vCJD imaging: sCJD = DWI cortical ribboning + caudate/putamen restriction; vCJD = pulvinar sign (bilateral pulvinar FLAIR hyperintensity). PSWCs on EEG are typical of sCJD but absent in vCJD. PRNP D178N + methionine at codon 129 = FFI; same D178N + valine at codon 129 = familial CJD.
Reversible Causes of Dementia
Cause Key Clue Diagnostic Test Treatment
NPH Triad: gait apraxia (“magnetic gait”) + incontinence + dementia MRI: ventriculomegaly disproportionate to atrophy (Evans index >0.3); large-volume LP (30–50 mL) with pre/post gait assessment VP shunt; gait improves first and most
B12 Deficiency Subacute combined degeneration (dorsal columns + corticospinal tracts); megaloblastic anemia; peripheral neuropathy Serum B12 ↓; methylmalonic acid ↑; homocysteine ↑ B12 supplementation (IM or high-dose PO); neurologic damage may be irreversible if prolonged
Hypothyroidism Cognitive slowing, depression, constipation, weight gain, cold intolerance TSH ↑; free T4 ↓ Levothyroxine replacement
Neurosyphilis Argyll Robertson pupils (accommodate but don’t react to light); tabes dorsalis RPR/VDRL screen → FTA-ABS confirm; CSF VDRL (specific but insensitive) IV penicillin G × 10–14 days
HIV-Associated Dementia Subcortical dementia pattern; CD4 typically <200; diffuse WM changes HIV testing; MRI: WM changes + atrophy ART (CNS-penetrating regimens preferred)
Depression (Pseudodementia) “I don’t know” answers (vs confabulation in true dementia); effort-dependent poor performance Neuropsych testing: intact recognition memory; rapid onset correlating with depressive episode SSRIs; psychotherapy; cognition improves with depression treatment
Medication-Induced Anticholinergics, benzodiazepines, opioids, anticonvulsants; temporal relationship to drug initiation Medication reconciliation; Beers criteria review Deprescribing; dose reduction
Autoimmune Encephalitis Subacute cognitive decline + seizures + psychiatric symptoms; often young; may fluctuate Serum + CSF autoimmune encephalitis antibody panel Immunotherapy (steroids, IVIg, PLEX); tumor search and removal if paraneoplastic
Chronic Subdural Hematoma Elderly; history of falls/anticoagulation; headache; fluctuating cognition; focal deficits CT head: crescent-shaped hypodense/mixed collection Surgical evacuation (burr hole drainage)
Hepatic Encephalopathy Liver disease; asterixis; confusion; day-night reversal; elevated ammonia Ammonia level; MRI: T1 hyperintensity in globus pallidus (manganese) Lactulose + rifaximin; treat precipitating cause
Hashimoto Encephalopathy (SREAT) Encephalopathy + seizures + myoclonus; fluctuating course; may mimic CJD Elevated anti-TPO / anti-thyroglobulin; diagnosis of exclusion Steroid-responsive (IV methylprednisolone → oral taper)
Wernicke-Korsakoff Wernicke triad: confusion + ataxia + ophthalmoplegia; Korsakoff: anterograde amnesia + confabulation Clinical diagnosis; MRI: mammillary body + periaqueductal gray enhancement; low thiamine level IV thiamine BEFORE glucose; high-dose thiamine replacement
💎 Board Pearl
NPH triad = Wet (incontinence), Wacky (dementia), Wobbly (gait apraxia) — gait improves first with shunting and is the best predictor of shunt response. Large-volume LP (30–50 mL) with pre/post gait testing is both diagnostic and prognostic.
Dementia Workup — Standard Battery
Test Purpose Key Finding
MRI brain (with DWI) Structural imaging for all patients Atrophy pattern, WM disease, infarcts, masses, NPH, CJD (DWI ribboning)
FDG-PET Differentiate AD vs FTD vs DLB when uncertain AD: temporoparietal ↓; FTD: frontal ↓; DLB: occipital ↓
Amyloid PET Confirm/exclude AD pathology in atypical or young-onset cases Positive = AD likely; negative essentially rules out AD
CBC Screen for anemia, infection, malignancy Megaloblastic anemia (B12); pancytopenia
CMP Electrolytes, glucose, renal/hepatic function Metabolic encephalopathy; hepatic/renal failure
TSH Screen for hypothyroidism Elevated TSH = hypothyroidism (reversible)
B12 / Folate Screen for B12 deficiency Low B12 + high MMA = B12 deficiency (reversible)
RPR / VDRL Screen for neurosyphilis Positive → confirm with FTA-ABS → LP for CSF VDRL
HIV Screen for HIV-associated dementia Positive with low CD4 + subcortical dementia pattern
ESR / CRP Screen for inflammatory/vasculitic processes Elevated in CNS vasculitis, infection, systemic autoimmune disease
Lumbar Puncture (CSF) AD biomarkers, CJD (RT-QuIC), infection, autoimmune, NPH AD: Aβ42 ↓ + p-tau ↑; CJD: RT-QuIC +; autoimmune: specific antibodies
EEG CJD, NCSE, encephalopathy CJD: PSWCs; NCSE: seizure activity; encephalopathy: diffuse slowing
Neuropsych Testing Quantify cognitive domains; differentiate dementia subtypes Amnestic pattern (AD); executive/subcortical (VaD/FTD); visuospatial (DLB/PCA)
Clinical Pearl
Minimum workup for all new dementia evaluations = MRI brain + B12 + TSH + CMP + CBC. Add RPR, HIV, LP, and advanced imaging based on clinical suspicion. EEG is mandatory if RPD is suspected (rules out NCSE and evaluates for CJD).
Cognitive Domains & Localization
Domain Tested By Localization Dementia Association
Episodic Memory Word list recall, story recall (delayed recall + recognition) Medial temporal lobe / hippocampus AD (encoding deficit — poor recall AND recognition)
Semantic Memory Object naming, category fluency, word definitions Anterior/inferolateral temporal lobe svPPA (loss of word meaning); late AD
Working Memory Digit span forward/backward, serial 7s Dorsolateral prefrontal cortex, parietal Subcortical dementias (VaD); lvPPA (phonological loop)
Visuospatial Clock drawing, figure copy, line bisection, Benton judgment of line orientation Right parietal / parieto-occipital DLB; posterior cortical atrophy (AD variant)
Executive Function Trails B, Wisconsin Card Sort, Stroop, verbal fluency (letter) Prefrontal cortex (dorsolateral, orbitofrontal) bvFTD; VaD (subcortical); DLB
Language Boston Naming Test, sentence repetition, fluency, comprehension Left perisylvian (Broca, Wernicke, arcuate fasciculus) PPA variants (nfvPPA, svPPA, lvPPA)
Social Cognition Emotion recognition, theory of mind tasks, faux pas recognition Orbitofrontal cortex, anterior temporal, insula, amygdala bvFTD (loss of empathy, social inappropriateness)
Praxis Pantomime tool use, imitate gestures, ideomotor/ideational tasks Left parietal (dominant hemisphere), supplementary motor area Corticobasal syndrome; moderate–severe AD
💎 Board Pearl
MCI subtypes predict dementia type: amnestic MCI → AD; dysexecutive MCI → VaD or FTD; visuospatial MCI → DLB; language MCI → PPA/FTD. Multi-domain amnestic MCI has the highest conversion rate to AD dementia (~10–15% per year).
Dementia Pharmacotherapy
Drug Class Indication MOA Key Side Effects
Donepezil AChE inhibitor AD mild–severe (most widely used) Reversible acetylcholinesterase inhibition → ↑ ACh at synapse GI (nausea, diarrhea); bradycardia; vivid dreams; insomnia
Rivastigmine AChE + BuChE inhibitor AD mild–moderate; PDD (only AChEI FDA-approved for PDD) Dual cholinesterase inhibition (acetyl + butyryl) GI effects; patch formulation reduces GI side effects
Galantamine AChE inhibitor + nicotinic receptor modulator AD mild–moderate AChE inhibition + allosteric nicotinic receptor potentiation GI; bradycardia; syncope
Memantine NMDA receptor antagonist AD moderate–severe (add to AChEI) Blocks excessive glutamate excitotoxicity at NMDA receptor Dizziness, headache, confusion; generally well-tolerated
Lecanemab Anti-amyloid monoclonal antibody (anti-protofibril) Early AD with confirmed amyloid pathology Binds soluble Aβ protofibrils → clearance of amyloid ARIA (edema + hemorrhage); APOE ε4 homozygotes at highest ARIA risk; infusion reactions
Aducanumab Anti-amyloid monoclonal antibody Early AD (controversial; accelerated FDA approval) Targets aggregated Aβ (fibrils + plaques) ARIA (higher incidence than lecanemab); limited clinical use
Brexpiprazole Atypical antipsychotic (partial D2/5-HT1A agonist) Agitation in AD (first FDA-approved drug for this indication, 2023) Partial dopamine D2 and serotonin 5-HT1A agonism; 5-HT2A antagonism Headache, dizziness, UTI; black box warning: increased mortality in elderly with dementia-related psychosis
SSRIs (citalopram, sertraline, trazodone) Selective serotonin reuptake inhibitors Behavioral symptoms in dementia (depression, agitation, bvFTD behaviors) Serotonin reuptake inhibition QTc prolongation (citalopram at higher doses); sedation (trazodone); hyponatremia
Clinical Pearl
Avoid anticholinergics in all dementias (worsen cognition). Avoid typical antipsychotics (haloperidol) in DLB — severe/fatal neuroleptic sensitivity. If antipsychotics needed in DLB: quetiapine (lowest risk) or pimavanserin; never haloperidol. All antipsychotics carry a black box warning for increased mortality in elderly dementia patients.
Key Numbers & Board Traps
Fact Value / Detail
MCI conversion rate to dementia ~10–15% per year (amnestic MCI → AD); some revert to normal
APOE ε4 homozygous risk 8–15× increased risk of sporadic AD; shifts onset earlier by ~10–15 years
AD amyloid plaques vs NFTs Plaques: extracellular Aβ42; NFTs: intracellular hyperphosphorylated tau; NFT burden correlates with clinical severity (not plaques)
CJD median survival sCJD ~5 months; vCJD ~14 months; GSS 2–10 years; FFI 6–36 months
Huntington CAG repeat ≥36 repeats = pathologic (≥40 = full penetrance); anticipation (paternal transmission → earlier onset in offspring)
NPH opening pressure Normal or low-normal (<18 cm H2O) — that is why it is called “normal pressure” hydrocephalus; Evans index >0.3
Sundowning timing Late afternoon / early evening; worsening confusion, agitation, behavioral symptoms in moderate–severe AD
MMSE dementia cutoff ≤24/30 suggests cognitive impairment; ≤18 = moderate; ≤10 = severe; limited by education/language bias
MoCA cutoff <26/30 = abnormal; more sensitive than MMSE for MCI and executive/visuospatial deficits; +1 point if ≤12 years education
Clock Drawing Test Tests: circle (planning), numbers (visuospatial/semantic), hands (executive/abstraction); quick screen for parietal + executive dysfunction
DLB 1-year rule Dementia before or within 1 year of parkinsonism = DLB; dementia >1 year after established PD = PDD
RT-QuIC specificity ~98% specificity, ~92% sensitivity for sCJD; most specific antemortem CSF test
CADASIL imaging pattern Anterior temporal + external capsule WML (pathognomonic); NOTCH3 gene, chromosome 19
C9orf72 repeat GGGGCC hexanucleotide expansion on chromosome 9; most common genetic cause of both FTD and ALS
Braak NFT stages I–II: entorhinal (preclinical); III–IV: limbic/hippocampal (MCI); V–VI: neocortical (dementia)
💎 Board Pearl
  • Early behavioral change + preserved memory = bvFTD, not AD
  • Haloperidol in patient with dementia + visual hallucinations + parkinsonism → DLB neuroleptic sensitivity
  • DWI cortical ribboning = CJD, not encephalitis
  • PPA with impaired sentence repetition = lvPPA (AD pathology), not FTD pathology
  • Dementia + gait + incontinence with disproportionate ventriculomegaly = NPH, not VaD
  • “I don’t know” answers = pseudodementia; near-miss/confabulation = true dementia
  • PRNP D178N + methionine at codon 129 = FFI; same mutation + valine = familial CJD
  • C9orf72 = TDP-43, not tau; MAPT = tau
  • vCJD = pulvinar sign + no PSWCs; sCJD = cortical ribboning + PSWCs
  • APOE ε4 is a risk factor, not deterministic — homozygotes have the highest risk but can still be unaffected