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Amyotrophic Lateral Sclerosis (ALS)
Behaviour
- Apathy
Aggression
Disinhibition
Loss of empathy
Fixation
Anxiety and depression
Lack of Sleep
Biomarkers
- Neurofilament light chain (NfL)
TDP-43
Progranulin
Phosphorylated neurofilament heavy (pNfH)
Pathology
- Neurons in the brain, brainstem, and spinal cord
Loss of axons
Oxidative stress
Gliosis
Huntington's Disease (HD)
Behaviour
- Mood swings: Feeling irritable, depressed, or angry
Apathy: Lack of interest in things
Impulsiveness: Acting without thinking, or outbursts
Social Isolation
Lack of awareness
Communication difficulties
Biomarkers
- Neurofilament light chain (NEFL)
Tau
YKL-40
Caudatend putamen volume loss
Pathology
- Striatum
Thalamus
Cortex
Peripheral tissues
Motor defects
Alzheimer’s Disease and Dementia
Behaviour
- Agitation
Aggression
Depression & Anxiety
Memory loss
Hallucinations
Biomarkers
- Amyloid beta (Aβ)
Tau
Neurofilament light chain (NfL)
Beta-amyloid 42
Pathology
- Amyloid plaques
Neurofibrillary tangles
Loss of neurons
Vascular dementia
Diabetic Neuropathy
Behaviour
- Depression
Fear of falling
Disability
Weight loss
Biomarkers
- Monocyte chemoattractant protein-1 (MCP-1)
Soluble ICAM-1nd IL-1
Nuclear factor (erythroid-derived 2) (NFE2L2)
Calprotectin
microRNAs
Pathology
- Nerve fiber loss
Microangiopathic changes
Vascular changes
Reactive oxygen species
Alpers' Syndrome
Behaviour
- Seizures
Developmental delays
Intellectual decline
Sleepiness, irritability, and memory loss
Irritability
Migraine headaches
Biomarkers
- Genetic testing
Cerebrospinal fluidnalysis
Liver biopsy
Mitochondrial DNA depletion
Pathology
- Gray matter degeneration
Cortical atrophy
Signal abnormalities
Reactive astrogliosis
Optic atrophy
Canavan Disease
Behaviour
- Poor head control
irritability
quietness
lack of interest or emotion
Sleep disturbances
Biomarkers
- N-acetylasparticcid (NAA)
Aspartoacylasectivity
ASPA gene
Pathology
- Spongiform degeneration
Vacuolization
Dilated ventricles
Dysmyelination
Swollen astrocytes
Demyelinating Diseases
Behaviour
- Anxiety,
Depression
Vision changes
Muscle weakness
Balance problems
Biomarkers
- Aquaporin-4 (AQP-4)
Glialcidic fibrillary protein (GFAp)
S100β
CHI3L1
Pathology
- Demyelination
Sclerosis
Lesions
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
Behaviour
- Progressive weakness
Gait difficulties
Fatigue
Muscle atrophy
Neuropathic pain
Biomarkers
- Serum glycoproteins
Neurofilament light chain (NFL)
Immune cell subsets
Clinical heterogeneity
Pathology
- Demyelination
Onion bulb formation
Nerve biopsy
Axonal damage
Immune-mediated
Encephalitis
Behaviour
- Memory loss
Anxiety
Irritability
Weakness or loss of movement
Loss of consciousness
Biomarkers
- Neurofilament light chain (NfL)
Chitinase 3-like 1nd complement factors
Autoantibodies: Suchs DPPX, IgLON5,nd neurexin-3α
IgGntibodiesgainst the GluN1 subunit of the NMDAR
Pathology
- Viral infections
Arboviruses
Autoimmune responses: NMDAR
Hallervorden-Spatz Syndrome
Behaviour
- Vision loss
Personality Changes
Depression & Anxiety
Obsessive Compulsive Disorder
Psychosis
Biomarkers
- Ironccumulation
PANK2 gene mutations
Post-mortem findings
Genetic testing
Pathology
- Brain degeneration
Corticospinal signs
Iron deposition
Spheroid formation
Glial reaction
Kearns-Sayre Syndrome (KSS)
Behaviour
- Decreased motivation
Frustration and irritability
Social withdrawal
Anxiety and depression
Difficulty with coordination and balance (ataxia)
Biomarkers
- Genetic testing
Muscle biopsy
Cerebrospinal fluid (CSF) tests
Blood tests: Serum creatinine kinase level
Urine tests: pH, protein, glucose
Pathology
- Mitochondrial dysfunction
Oxidative phosphorylation impairment
Cerebellar dysfunction
Heteroplasmy
MELAS
Behaviour
- Confusion
Hallucinations
Depression & anxiety
Partial loss of vision or hearing
Biomarkers
- Lactate
ATP
Creatine
Lipidccumulation
FGF21
Pathology
- Mitochondrial dysfunction
Vascular abnormalities
Nitric oxide deficiency
Ocular pathology
Genetics: mutations are A3243G and T3271C
Mitochondrial Diseases
Behaviour
- Anxiety and depression
Speech disturbances
Muscle weakness
Vision and hearing loss
Biomarkers
- Lactatend pyruvate
Aminocids
Acylcarnitines
Organiccids
FGF21nd GDF15
Pathology
- Ragged red fibers
Cytochrome-c-oxidase (COX) negative fibers
Neuronal loss
Gliosis
Demyelination
Polymyositis and Dermatomyositis
Behaviour
- Weight loss
Muscle pain
Muscle weakness
Fatigue
Difficulty swallowing or breathing
Biomarkers
- Muscle biopsy
Anti-transcription intermediary factor 1-γ (TIF1-γ)ntibodies
Classic biomarkers
Myxovirus resistance protein 2
Pathology
- Muscle fiber damage
Capillary damage
Endoplasmic reticulum stress
Prion Diseases
1. Creutzfeldt-Jakob Disease (CJD)
2. Gerstmann-Sträussler-Scheinker Syndrome (GSS)
3. Fatal Familial Insomnia (FFI)
4. Kuru
Behaviour
- Aggression
Loss of interest
Depression & Anxiety
Obsessional or paranoid behavior
Withdrawing
Biomarkers
- 14-3-3 proteins
Tau protein
NfL
Alpha-nd beta-synuclein, GFAP,ndβ40/42
Pathology
- Neuronal loss and gliosis also occur
Amyloid plaques
Spongiform change
Neuronal loss
Gliosis
Shy-Drager Syndrome
Behaviour
- Uncontrollable laughing or crying
Movement and coordination issues
Vision changes
Muscle issues
Breathing issues
Biomarkers
- Alpha-synuclein
Iron
Phosphoprotein-25α (p25α)
MicroRNA transcriptomics
Pathology
- Ventral horn cell loss
Striatonigral degeneration
Olivopontocerebellar atrophy
Pyramidal tract degeneration
Autonomic nuclei loss
Subacute Sclerosing Panencephalitis (SSPE)
Behaviour
- Mood swings
Irritability
Social withdrawal
Hallucinations
Sleeplessness
Biomarkers
- Measlesntibody titers
CSF γ-globulin
Electroencephalography
Brain biopsy
Pathology
- Astrocytosis
Viral inclusions
Neurofibrillary tangles
Demyelination
Neuronal loss
Tay-Sachs Disease
Behaviour
- Vision loss or blindness
Irritability
Listlessness
Dementia (loss of brain function)
Muscle weakness
Biomarkers
- Lyso-GM2 ganglioside
Hexosaminidase enzyme levels
Urinary oligosaccharides
Pathology
- Enzyme deficiency: mutation in the HEXA gene
Inherited in an autosomal recessive manner.
Ganglioside accumulation
Microglia proliferation
Tremor Disorders
Behaviour
- Stress, anxiety, or fatigue
Depression
Social phobia
Avoidant personality types
Shaking or trembling
Biomarkers
- Accelerometers
Electroencephalography (EEG)
Electromyography (EMG)
Fluid-based tests
Pathology
- Purkinje cell damage
Cerebellar degeneration
Climbing fiber changes
Basket cell changes
Parkinson's Disease (PD)
Behaviour
- Impulsivity
apathy
Compulsive behaviors:hoarding or hypersexuality
Anger, aggression
Depression and anxiety
Sleep issues
Biomarkers
- Alpha-synuclein
Lysosomal enzymes - Gcase
Pentraxin 3 (PTX3)
Orexin
DJ-1
Pathology
- Loss of dopaminergic neurons
Lewy bodies
Oxidative stress
Muscle stiffness
Slowness of movement
Impaired balance and coordination
Frontotemporal Dementia (FTD)
Behaviour
- Impulsivity
Inappropriate behavior
Loss of inhibitions
Lack of empathy
Loss of interest
Depression and Anxiety
Biomarkers
- Neurofilament light chain (NfL)
Progranulin (PGRN)
Tau
C9ORF72
Pathology
- TDP-43
Pick bodies
FUS
Epilepsy
Behaviour
- Emotional changes: Depression, irritability, anxiety,
Hyperactivity
Aggression
Movement and coordination
Behavioral epileptic seizures
Biomarkers
- CD40
Glial fibrillarycidic protein (GFAP)
MicroRNAs
Pathology
- Neuron loss
Astrocyte changes
Axonal sprouting
Focal cortical dysplasia
Neoplasms
Amyloid Polyneuropathy
Behaviour
- Balance difficulties
Sexual dysfunction
Autonomic dysfunction
Sweating abnormalities
Painful neuropathy
Biomarkers
- Skin biopsy
Cerebrospinal fluid (CSF) protein
Neurofilament light chain (NfL)
Cytokines
Pathology
- Axonal degeneration
Blood vessel damage
Schwann cell damage
Toxic effects
Axonal sprouting
Friedreich Ataxia (FA)
Behaviour
- Frustration and anxiety
Depression
Social withdrawal
Cognitive changes
Fatigue
Biomarkers
- Mitochondrial complex I (MC1)
GPX1
Troponin T
Pathology
- Nerve fibers
Dorsal root ganglia
Cerebellum
Dentate nuclei
Myelinated fibers
Krabbe Disease
Behaviour
- Muscle weakness
Feeding difficulties
Seizures
Unexplained fevers
Holding hands in fists
Biomarkers
- Psychosine
Galactosylceramide
Glucosylceramide
Lyso-Gb1
Lactosylceramide
Pathology
- Demyelination
Globoid cells
Reactive astrocytic gliosis
Accumulation of psychosine
Cerebral Palsy
Behaviour
- Anxiety & Depression
Antisocial behaviors
Hyperactivity
Frustration and anger
Dependency
Biomarkers
- Prenatal biomarkers: (PAPP-A)nd (beta-hCG)
Genetic factors
Epigenetic markers
Pathology
- Perinatal asphyxia
Muscle contractures
Spastic, dyskinetic, ataxic - CP
Premature birth
Intracranial hemorrhage
Corticobasal Degeneration (CBD)
Behaviour
- Apathy
Irritability
Disinhibition
Obsessive or impulsive thoughts
Muscle stiffness
Biomarkers
- Total tau (t-tau)
Phosphorylated tau (p-tau)
Amyloid beta (Aβ42)
Pathology
- Astrocytic plaques
Spongiosis and ballooned neurons
Tau-positive inclusions
Focal Dystonia
Behaviour
- Repetitive movements, twisting motions, and tremors
Muscle spasms
Difficulty with dexterity
Avoidance behavior
Anxiety and frustration
Biomarkers
- White matterbnormalities
Cortical silent period (CSP)
Motor evoked potential (MEP)
Machine learning
Pathology
- Network disorder model
Cerebellar involvement
Abnormal inhibition
Dysfunctional inhibitory interneurons that use GABA
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
Behaviour
- Episodic nature
Focal weakness
Sensory disturbances
Transient symptoms
Variable severity
Biomarkers
- Genetic testing: PMP22 gene
Nerve conduction studies (NCS)
Electrophysiological findings
Pathology
- Myelin abnormalities
Tomaculae
Schwann cell dysfunction
Lambert-Eaton Myasthenic Syndrome (LEMS)
Behaviour
- Proximal muscle weakness
Exercise facilitation
Reduced reflexes
Autonomic symptoms
Gradual onset
Fatigue
Biomarkers
- Targetntigen: VGCCs
Diagnostic test
Clinical correlation
Pathology
- Autoimmune attack
Reduced acetylcholine release
Muscle weakness
Paraneoplastic association
Meningitis
Behaviour
- Anxiety
Depression
Lack of self-esteem and confidence
Aggression
Hearing loss
Biomarkers
- White cell count (pleocytosis)
Glucose
Protein
IL-6
Procalcitonin
Pathology
- Bacterial invasion
Brain parenchyma damage
Subarachnoid space inflammation
Arteritis and phlebitis
Obstructive hydrocephalus
Moyamoya Disease
Behaviour
- Hyperactivity
Mood lability
Poor concentration
Depression and anxiety
Seizures
Biomarkers
- Matrix metalloproteinase-9 (MMP-9)
Vascular endothelial growth factor (VEGF)
MMP-2
ACTA2
RNF213
Pathology
- Intimal thickening
Media attenuation
Aberrant distal vascular network
Smooth muscle cell hyperplasia
Abnormal angiogenesis
Postpartum Depression
Behaviour
- Social withdrawal
Fear
Mood swings: Feeling sad, hopeless, or overwhelmed
Sleeping problems
Biomarkers
- DNA methylation: HP1BP3nd TTC9B genes
TNF-α
Interleukin (IL-6)nd IL-10
Thyroid hormones
Pathology
- Neurotransmitter changes
Sleep changes
Severe anxiety and panic attacks
Progressive Supranuclear Palsy (PSP)
Behaviour
- Apathy
Impulsivity
Irritability
Depression
Emotional dysregulation
Biomarkers
- Neurofilament light chain
Tau protein
Glial fibrillarycidic protein (GFAP)
Amyloid beta-peptides (Aβ)
Pathology
- Neurofibrillary tangles
Neuronal loss
Gliosis
Eye movement abnormalities
Spinocerebellar Ataxia (SCA)
Behaviour
- Motor impairments: ataxia
Speech difficulties
Abnormal eye movements like nystagmus
Speech difficulties
Depression and anxiety
Social withdrawal
Biomarkers
- Neurofilament light chain (NfL)
α-synuclein
GFAP
MutantTXN3
Pathology
- Protein aggregation
Mitochondrial dysfunction
Calcium homeostasis
Affected Brain Regions
Neurodegeneration Cascade
Syringomyelia
Behaviour
- Loss of bladder and bowel control
Excessive sweating
Fluctuating blood pressure
Uncoordinated movements
Muscle contractions
Biomarkers
- CSF flow dynamics
Inflammatory markers: S-100β, neuron-specific enolase
Primary diagnostic marker
Pathology
- Fluid-filled cyst
syrinx
Trigeminal Neuralgia
Behaviour
- Social isolation
Depression
Suicidal thoughts
Avoidance
Safety behaviors
Biomarkers
- C-reactive protein (CRP)
Procalcitonin (PCT)
Neuron-specific enolase (NSE)
Clec11a
LGMN
Pathology
- Demyelination
Vascular compression
Lesions
Alzheimer’s Disease (AD)
Behaviour
- Memory Loss
Depression
Aggression
Weight loos
Social Isolation
Lack of Sleep
Biomarkers
- Amyloid-beta
Tau
Flotillin
Insulin pathway proteins
Pathology
- Stroke
Brain volume decreases
Neurofibrillary Tangles
Brian Atrophy
Plaques
Lewy Body Dementia (LBD)
Behaviour
- Hallucinations
Delusions
Depression, anxiety, lack of interest
Lack of Sleep
Managing behavioral changes
Biomarkers
- Phospho-tau proteinnd Tau-protein
Neurofilaments (NFs)
Alpha-synuclein
YKL-40 protein
Contactin-1
Pathology
- Lewy bodies
Lewy neurites
Amyloid-β plaques
Mitochondrial dysfunction
Protein degradation pathway impairment
Rett Syndrome
Behaviour
- Hand stereotypies
Anxiety
Social withdrawal
Self-injurious behavior
Sleep disturbances
Biomarkers
- Geneticnalysis of MECP2 gene
Brainctivity through EEG
Cerebrospinal fluid (CSF) proteinnalysis
Auditory evoked potentials (AEP)
Pathology
- Neuronal dysfunction
Oxidative stress
Brain size
Peripheral pathologies
Congenital Myopathies
Behaviour
- Floppiness
Falling or stumbling
Difficulty breathing
Difficulty feeding
Craniofacial dysmorphism
Biomarkers
- Muscle biopsy
Creatine kinase (CK)
Genetic testing: RYR1 gene
Pathology
- Heterogeneity
Muscle fiber abnormalities
Actin aggregates
Cylindrical spirals
Batten Disease
Behaviour
- Personality changes
Slow learning
Clumsiness or stumbling
Difficulty concentrating
Lack of sleep
Biomarkers
- Genetic testing
Brain volumetry
Gait impairment
Pathology
- Lysosomal dysfunction
Glial reactivity
Neuronal loss
Peripheral nerve involvement
Skeletal muscle involvement
Ataxia-Telangiectasia
Behaviour
- Jerky or involuntary movements
Unsteady gait, difficulty walking
Speech difficulties
Progression
Social and emotional impacts: Anxiety
Biomarkers
- Alpha-fetoprotein (AFP)
Neurofilament light chain (NfL)
Oxidative stress markers
Genetic testing
Immunoglobulin levels
Pathology
- DNA repair defect
Cellular consequences
Neurological manifestations
Telangiectasia
Immunodeficiency
Charcot-Marie-Tooth Disease (CMT)
Behaviour
- Depression
Sleep impairment
Muscle weakness
neuropathic pain
Walking pattern (gait).
Biomarkers
- Neurofilament light (NfL)
Neural celldhesion molecule 1 (NCAM1)
Growth differentiation factor 15 (GDF-15)
Glial fibrillarycid protein (GFAP)
Fibroblast growth factor 21 (FGF-21)
Pathology
- Genetic defects
Demyelination
Axonal degeneration
Schwann cell dysfunction
Dystonia
Behaviour
- Anxiety
Prosocial difficulties
Functional impact
Sensory tricks
Dystonia
Biomarkers
- DNA methylation
Microstructural neural networks
Neurophysiological signals
Pathology
- Sensorimotor circuitry
Central nervous system
Genetic mutations: TOR1A gene
Blepharospasm
Guillain-Barré Syndrome (GBS)
Behaviour
- Progressive weakness
Sensory abnormalities
Loss of reflexes
Muscle pain
Autonomic dysfunction
Respiratory complications
Biomarkers
- Neurofilaments
Tau proteins
14-3-3 proteins
Neuron-specific enolase
Pathology
- Inflammatory lesions
Myelin damage
Lymphocytes
Axonal degeneration
Wallerian degeneration
Hyperekplexia
Behaviour
- Muscle stiffness (hypertonia)
Exaggerated startle reflex
Falling episodes
Delayed motor development
Anxiety and fear
Biomarkers
- Genetic sequencing: GLRA1, SLC6A5, GLRB, GPHN,ndRHGEF9
Linkagenalysis
Haplotypenalysis
Pathology
- Startle response
Hip dislocation
Myoclonus
Apnea
Muscle rigidity
Leigh Syndrome
Behaviour
- Vomiting
Irritability or continuous crying
Poor feeding or sucking
Diarrhea
Lethargy and drowsiness
Biomarkers
- Lacticcid levels
Plasmaminocids
Urinary organiccids
Carnitine panel
Pathology
- Lesions
Hyperlacticacidemia
Gliosis
Vessel hypertrophy
Migraine
Behaviour
- Fatigue
Irritability
Digestive issues
Migraine triggers
Psychological stressors
Biomarkers
- Calcitonin gene-related peptide (CGRP)
Inflammatory markers: Suchs CRP, TNF-α, interleukins
Endothelial progenitor cells (EPCs)
Oxidative stress markers
Pathology
- Neuropeptides
Trigeminovascular system
Sub-cortical aminergic sensory modulatory systems
Cortical spreading depression (CSD)
Pelizaeus-Merzbacher Disease
Behaviour
- Motor skill delays
Speech difficulties
Ataxia
Chorea: Jerking movements
Developmental regression
Biomarkers
- Chromosomal microarray testing
Fluorescence in-situ hybridization (FISH)
Genetic testing for PLP1 gene mutations
Droplet-digital polymerase chain reaction (dd-PCR)
Pathology
- Myelin loss
Oligodendrocyte loss
Misfolded PLP
Endoplasmic reticulum (ER) stress
Ataxia
Motor ability loss
Primary Lateral Sclerosis (PLS)
Behaviour
- Emotional lability
Social cognition deficits
Muscle weakness
Fatigue
Spasms
Biomarkers
- Neurofilament light chain (NfL)
Chitinase
Phosphorylated neurofilament heavy chain (pNFH)
Genetic testing: SOD1 or C9orf72 genes
Pathology
- Brain atrophy
Loss of pyramidal neurons
White matter degeneration
Upper motor neuron dysfunction
Restless Leg Syndrome (RLS)
Behaviour
- Irresistible urge to move legs
Pacing
Restlessness
Sleep disruption
Nighttime aggravation
Biomarkers
- Iron deficiency
Hypoxia-related proteins
Epigenetic markers
C-reactive protein (CRP)nd interleukin-6 (IL-6)
Pathology
- Dopamine dysfunction
Central nervous system (CNS) iron depletion
Genetic factors
Stiff-Person Syndrome
Behaviour
- Fear of leaving the house
Anxiety and depression
Hunched posture
Difficulty walking
Falls
Biomarkers
- Anti-GAD65ntibody
Anti-amphiphysinntibody
Anti-GABARAPntibody
Pathology
- GABA pathway disruption
Paraneoplastic
Impaired synaptic inhibition
Muscle hyperactivity
Tardive Dyskinesia
Behaviour
- Facial movements: Lip smacking
Body movements: Arm twitching
Involuntary
Stereotyped
Social impact
Biomarkers
- GPX1, MDA1, CAT1,nd TNF-α
Malondialdehyde
Superoxide dismutase
Lipid hydroperoxide
Pathology
- Dopamine
GABA
Oxidative stress
Tetanus
Behaviour
- Irritability
Delirium
Seizures
Muscle stiffness
Fever and sweating
Biomarkers
- Anti-tetanus toxinntibodies
H3F3A K28M
Pathology
- Entry into the body
Production of toxin
Spread of toxin
Autonomic dysfunction
Effect on the nervous system
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