Other degenerative disorder Flashcards
3 frontotemporal lobar degeneration
Behavior variant FTLD
Primary progressivr aphasias
Posterior cortical atrophy
FTLD - Personality and related abnormalities (ie disinhibition)
Behavior variant FTLD
Imaging of behavior variant FTLD
disproportionate atrophy in the frontal lobes
Pathophysio of behavior variant FTLD
Tau accumulation
Hyperphosphorylation
Chromosome that encodes tau protein linked to behavior variant FTLD
Chromosome 17
Chromosome 17 encodes
Tau protein
Visuospatial difficulty FTLD
Posterior cortical atrophy
2nd MF pathologic diagnosis dementia syndromes
Lewy body dementia (Diffuse body lewy dse)
Main components of Lewy body
Ubiquitin and synuclein
Pathology of Lewy body dementia (Diffuse body lewy dse)
Aggregated alpha synuclei
CF of Lewy body dementia (Diffuse body lewy dse)
Parkinsonian features, DEMENTIA, episodic delirium, REM sleep behavior disorder
Uncharacteristic of AD, CF of Lewy body dementia (Diffuse body lewy dse)
Episodic confusion, hallucinations, and paranoid delusions
Parkinsonian features of LBD
Responds to L Dopa for a limited time
Orthostatic Hypotension
Lewy body dimentia (Diffuse body lewy dse)
Huntington triad
Dominant inheritance
Choreoathetosis
Dementia
Triad of dominant inheritance, chereoathetosis, dementia
Hungtinton dse (chorea)
Huntington dse (chorea) pattern of inheritance
Autosomal dominant gene with complete penetrance
Usual age on onset Huntington dse (chorea)
4th and 5th decades
Genetic pathology of Huntington dse (chorea)
Excessively long repeat of CAG within Huntington gene
Huntington dse (chorea) marker
short arm of chromosome 4
Mental do Alterations of personality Poor self control Diminished work performance Gradual deterioration of intellectual function
Huntington dse (chorea)
Huntington dse (chorea) 5 characters
Mental do Alterations of personality Poor self control Diminished work performance Gradual deterioration of intellectual function
Abnormality of movement: slowness of movement
Chorea
Late onset cases of Huntington dse (chorea) rapid movement of tounge and mouth like
Tardive dyskinesia
Pathology of Huntington Dse (atrophy)
Gross atrophy of head caudate, putamen
Huntington dse occulomotor dysfunction
Impaired initiation and slowness of both pursuit and volitional saccadic movements
Impaired initiation and slowness of both pursuit and volitional saccadic movements
Huntington dse occulomotor dysfunction
Mechanism of dse (Huntington)
Anticipation - earlier onset in succesive generations
Huntingtin - expansion of polyglutamine region; protein accumulates in striatum
Expansion of polyglutamine region; protein accumulates in striatum
Huntingtin
huntingtin (protein) accumulates
In cells of striatum
Dx of huntington
DNA Analysis: more than 39 CAG repeats at Huntington locus
Tx of Huntington
Haloperidol (dopamine antagonist) 2-10 mg daily (does not alter progress of dse)
Reserpine clozapine tetrabezine - deplete dopamine
Tx of Huntington that deplete dopamine
Reserpine clozapine tetrabezine
Course fatal, ends in 5-10 years
Corticostriatospinal degenerations
Extreme rigidity, corticospinal signs
Corticostriatospinal degenerations
Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells
Guamanian Parkinson - dementia ALS
describe Guamanian Parkinson - dementia ALS
Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells
Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy
Adult polulyglucosan body dse
Guamanian Parkinson - dementia ALS islands
Mariana islands
Guamanian Parkinson - dementia ALS age
50-60
Severe cortical atrophy with NFT
Guamanian Parkinson - dementia ALS
Loss of anterior horn cells
Guamanian Parkinson - dementia ALS
Lafora bodies and corpora amylacea on neural process made up of glucose polymers
Adult polyglucosan body dse
Histopath of adult polyglucosan body dse
Lafora bodies and corpora amylacea
degree of dementia in Adult polyglucosan body dse
Dementia is mild
Nerve conduction velocities diminished
Adult polulyglucosan body dse
Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy
Lafora bodies, corpora amylacea
Mild dementia
Diminished nerve conductiom velocities
Adult polyglucosan body dse
3 forms of Multiple system atrophy MSA
Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration
Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration
what dse?
Multiple system atrophy MSA
In MSA, there is extensive loss of neurons in what part?
Zona compacta of Substantia Nigra
In MSA there is degenerative changes in what part?
Putamina
CF of MSA - 2
Orthostatic hypotension
Autonomic failure
No lewy bodies or tangles
MSA
Extensive loss of neurons in zona compacta in substantia nigra
MSA
Degenerative changes in putamina
MSA
CF orthostatic hypotension, autonomic failure
MSA
Extrapyramidal illness is more severe in what dse?
MSA
Relative symmetry of signs, lack of response to L dopa, minimal tremor, early presence of autonomic dse
MSA
MRI and CT of MSA
Atrophy of cerebellum and pons
CT, MRI: Atrophy of cerebellum and pons
MSA
Cerebellum hot cross sign
MSA
MSA patho
Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein
Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein
MSA
6th decade 45-75
Progressive Supranuclear Palsy PSP
Difficulty in balance abrupt falls visual and ocular disturbances slurring of speech dysphagia
Progressive Supranuclear Palsy PSP
Diff in voluntary vertical movement of the eyes (often downward)
Progressive Supranuclear Palsy PSP
face - staring "worried expression" diff swallowing forced laughing crying sleep disturbances REM sleep reduced
Progressive Supranuclear Palsy PSP
wide eyed stare
Progressive Supranuclear Palsy PSP
Posture hyperextension Unsteady gait loss of Vertical eye movements dysphagia speech diff
Progressive Supranuclear Palsy PSP
Suspected when older adult inexplicably develops state of imbalance frequent falls w/ PRESERVED CONSCIOUSNESS and variable extrapyramidal sx (neck dystonia, ocular palsies)
Progressive Supranuclear Palsy PSP
location of lesion in Progressive Supranuclear Palsy PSP
Midbrain
Progressive Supranuclear Palsy PSP Pathology
bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT
bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT
Progressive Supranuclear Palsy PSP
Midbrain atrophy
Mickey mouse ear sign
Progressive Supranuclear Palsy PSP
Tx of Progressive Supranuclear Palsy PSP
L dopa of slight and unsustained benefit
Proteins that assume alternative conformation
Prions
Rapidly progressive dementia + motor abn
Creutzfeldt Jakob Disease CJD
Prion binds to PrPc –> PrPsc
Prion