Demyelinating, Degenerative, Toxic and Eye Diseases Flashcards
(32 cards)
Multiple Sclerosis
Genetics (3) Etiology (2) Symptoms (5) Morphology, CSF Findings (3)
DR2
IL2 receptors
IL17 receptors
CD4+ Th1 and Th17 cells that attack myelin
Relapsing and Remitting episodes of neurologic issues Unilateral visual impairment** Optic neuritis Ataxia Nystagmus
Multiple PAS (+) Plaques in brain over space and time**
IgG with oligoclonal bands**
Elevated Protein
Pleocytosis
Neuromyelitis Optica
Etiology (2) CSF Findings (2), Symptoms (2) Treatment
Antibodies to aquaporins (NMO)
MOG Antibodies
Turbid
Neutrophilia
Bilateral optic neuritis
Spinal cord demyelination
Plasmapheresis
Acute Disseminated Encephalomyelitis
Pathogenesis (2) Symptoms (3) Prognosis, Morphology (2)
Monophasic demyelination
Following viral infection or immunization
Headache
Lethargy
Coma
*Follows 1-2 weeks after exposure,
20% die, most fully recover
Myelin loss with Axonal sparing
Multiple brain lesions appearing at same time
Acute Necrotizing Hemorrhagic Encephalomyelitis
Population, Pathogenesis, Prognosis
Young adults and kids
Recent upper respiratory infection
Fatal in most cases, nobody fully recovers
Central Pontine Myelinolysis
Etiology, Pathology, Symptoms (4)
Too rapid correction of severe hyponatremia
Symmetrical myelin loss without inflammation
Dysphagia
Dysarthria
Diplopia
Loss of Consciousness
Alzheimer’s Disease
Complications (4) Morphology, Histology (6) Prognostic Factor
Progressive disorientation, memory loss, aphasia
Hydrocephalus ex vacuo
Global cortical atrophy of frontal, temporal and parietal lobes
Neuritic Plaques with amyloid core Diffuse Plaques without amyloid (Down's syndrome) Neurofibrillary tangles (silver stain) Tau filaments Granulovacuolar degeneration Hirano bodies
Number of tangles
Cerebral Amyloid Angiopathy
Association, Morphology, Diagnosis
Invariably accompanies Alzheimer’s
Thick vessels in parenchyma
Congo red stain for A-Beta amyloid
Pick Disease
Classification, Clinical Features (3) Morphology (3)
Frontotemporal dementia with Tau pathology
Early onset
Behavioral and personality changes
Language disturbances
Asymmetric atrophy of frontal and temporal lobes
Knife edge thin gyri
Pick bodies (silver stain)
Progressive Supranuclear Palsy
Symptom, Population, Prognosis, Pathology (3)
Truncal rigidity
Men
Fatal
Widespread neuronal loss, even in cerebellum
Globose fibrillary tangles
4R Tau filaments
Parkinson’s Disease
Symptoms (4) Morphology (3) Genetics (2)
Decreased facial expression
Pill rolling tremor
Shuffling gait (festinating)
Slow movement
Pale, depigmented substantia nigra
alpha-synuclein deposits
Lewy body deposition in neurons (eosinophilic with dense core and halo)
Autosomal dominant Chr 4q21 defect Parkin gene (juvenile AR)
Lewy Body Dementia Symptoms (3)
Dementia
Parkinson’s
Hallucinations
Multiple System Atrophy
Morphology, Presentation (3)
Oligodendrocyte alpha-synuclein inclusions
Parkinson’s
Ataxia
Autonomic Dysfunction (orthostatic hypotension)
Huntington’s Disease
Presentation (2) Genetics (4) Pathogenesis, Morphology (3)
Chorea
Dementia
Autosomal dominant
Polyglutamine trinucleotide repeats
CAG repeats
Shows generational anticipation
Toxic GOF of Huntingtin protein
Head of Caudate nucleus atrophy (basal ganglia)
Corpus callosum atrophy
Globus pallidus atrophy
Friedreich Ataxia
Genetics (4) and Symptoms (5)
Autosomal recessive
GAA trinucleotide repeat
Chr 9q13
Frataxin protein defect
Ataxia by age 10 Cardiac Arrhythmias Congestive Heart Failure Diabetes Recurrent Pulmonary Infections
Ataxia-Telangiectasia
Genetics (2) Pathogenesis, Clinical Features (3)
ATM gene
Chr 11q22-23
Kinase defect causes susceptibility to genetic damage
CNS and Conjunctival Telangiectasias
Immunodeficiency causing recurrent sinopulmonary infections
Death in 20’s
Amyotrophic Lateral Sclerosis
Genetics (1), Pathogenesis (2) Morphology (4) Symptoms (7)
SOD1 gain of function
Loss of upper and lower motor neurons
Thin anterior roots of spinal cord
Atrophic precentral gyrus
Decreased anterior horn neurons
PAS (+) Bunina bodies
Asymmetric hand weakness (dropping things)
Cramping
Fasciculations
Respiratory infections
Progressive muscle atrophy
Progressive bulbar palsy: deglutination and phonation issues
Tay Sachs Disease
Genetics (1) Pathogenesis (2) Presentation
Chr 15 defect
Hexosaminidase A causes a buildup of GM2 ganliosides
Cherry red spots in maculae
MELAS
Mutation, Presentation (3)
Most common mitochondrial neurological disease
tRNA mutation
Stroke-like episodes that don’t correspond to a certain region of brain
Muscle weakness
Lactic acidosis
MERF
Mutation, Presentation (4) Morphology
tRNA mutation
Myoclonus
Seizures
Myopathy
Ataxia
Ragged red fibers
Kearn-Sayre Syndrome
Presentation (3) Morphology (2)
Ataxia
Pigmentary Retinopathy
Cardiac conduction defects
Spongiform gray/white matter changes
Neuron loss in cerebellum
Leigh Syndrome
Presentation (3) Pathology (2)
Lactic Acidemia
Seizures
Hypotonia
Spongiform brain
Vascular proliferation
B12 Deficiency
Main Complication
Subacute combined degeneration of the spinal cord
Thiamine Deficiency
Complications (2) Morphology
Wernicke Encephalopathy: reversible ataxia
Korsakoff Syndrome: Irreversible Confabulation
Mamillary body hemorrhage and necrosis
Carbon Monoxide Poisoning
Presentation (2) Pathology
Bright red brain
Red skin
Bilateral globus pallidi necrosis
