Disorders Flashcards
What type of plaque is quiescent and has no inflammation, no myelin, decreassed oligo nuclei, and decreased axons?
Astrocyte proliferation and gliosis is prominent?
Inactive MS plaque
Whta is a shadow plaque?
- border btw NL and affected white matter NOT sharply circumscribed
- abnormally thinned out myelin sheaths
- partial and incomplete remyelination by surviving oligos
Prognosis of Acute Necrotizing Hemorrhagic encephalomyelitis?
Fatal in most and if they survive they have significant defects
What is granulovacuolar degeneration?
- small clear intraneuronal cytoplasmic vacuoles which contain ag=rgyrophilic granules
- normal aging finding
- abundant in AD hippocampi and olfactory bulb
Vascular dementia prognosis and what do you see over the months/yrs?
- dementia improves with tx if caused by vasculitis
- develop multiple b/l GRAY matter and WHITE matter infarcts
Most common cause of AD parkinsons disease?
LRRK2 mutation
Mitochondrial dysfunction implicated as a contributing facotr based on AR forms of PD caused by mutations in the genes encoding proteins ___ ,_,&___
Mitochondrial dysfunction implicated as a contributing facotr based on AR forms of PD caused by mutations in the genes encoding proteins DJ-1, PINK1, & PARKIN
Heterozygous mutations in glucocerebrosidases are the nmost imporant risk fators for development of ____, accounting for ~5% of these cases.
Heterozygous mutations in glucocerebrosidases are the nmost imporant risk fators for development of PD, accounting for ~5% of these cases.
aTYPICAL PARKINSONIAN SYNDROMES OR pARKINSON-PLUS SYNDROMES?
HOW DO THESE RESPOND TO TREATMENT?
- PROGRESSIVE SUPRANUCLEAR PALSY
- MULTISYSTEM ATROPHY
- CORTICOBASAL DEGENERATION
- MINIMALLY RESPOND TO TX WITH L DOPA
What is the age of onset most commonly seen with Huntington Disease?
4th-5th decades
(not 3rd-4th like other cards)
Huntington Disease patients are at an increased risk of suicide, but the most common cause of death is?
Pneumonia
What is the difference with HD when you inherit it from your mother vs father?
- Anticipation: repeat expansions during spermatogenesis leads to earlier onset form (juvenile)
- with maternal inheritance oogenesis makes same amount of copies so you can predict when onset of symptoms might occur and what symptoms
Cognitive changes in HD are due to ___.
Cognitive changes in HD are due to neuronal loss from the cortex
Pathogenesis of HD?
- Loss of medium spiny striatal neurons leads to dyssregulation of basal ganglia circuitry that modulates motor output
- medium spiny neurons normally dampen motor activity
Who is at risk for Friedreich ataxia?
- Cajun (Acadian) descent
How long do patients with Friedreich Ataxia live and what are common causes of death?
- Most patients are wheelchair-bound within 5 years and die in second decade
- Intercurrent pulmonary infections and cardiac death = cause of death
What are Leukodystrophies?
- AR inheritance
- except adrenoleukodystrophy its X linked
- Lacks neuronal storage defects
- Diffuse involvement of white matter with deterioration of motor skills spasticity hypotonia or ataxia
- Leukodystrophies have insidious and progressive loss of crebral function at younger ages and is associated with diffuse and symmetric changes on imaging vs demyelinating diseases
Late infantile and juvelnile form of Metachromatic leukodystrophy?
- late infantile is the most common
- motor sx and progresses gradually
- death 5-10 yrs
Adult form of Metachromatic leukodystrophy?
- Psychiatric and cognitive sx initally
- motor sx comes later
Pelizaeus Merzbacher Disease?
- X linked proteolipid protein and DM20
- Invariably fatal leukodystrophy beginning after birth or early childhood
- Pendular eye movements hypotonia choreoathetosis and pyramdial signs early
- Later sx are spasticity dementia and ataxia
- Trigoid pattern in tissues sections stained for myelin
Canavan disease genetics and what is it?
- CHR 17 loss function in the deacetylatingenzyme aspartoacylase
- accumulating of N-Acetylaspartic acid
- Spongy degeneration of white matter
Canavan symptoms and onset?
- Megalocephaly
- severe mental deficits
- blindness
- white matter sx’s
- begins in earlly infancy and death in few years
Alexander disease?
- Gain of function mutation in GFAP resulting in decreased capcity to form filaments and induction of stress response
- accumulation of rosenthal fibers around blood vessels subpial and subependymal zones
Vanishing white matter leukodystrophy?
- mutation in 5 subunits of eukaryotic initiation factor 2B
- begins first few yrs of life with ataxia and seizures
- death few yrs after diagnosis
Kearn Sayre syndrome symptoms and genetics?
- sporadic disorder with large mitochondrial DNA deletion
- sx are cerebellar ataxia, progressive external opthalmoplegia, pigmentary retinopathy and cardiac conduction defects
Histology of Kearn Sayre syndrome?
- Spongiform change in gray and whtie matter
- Neuronal loss evident in cerebellum
Signs and symptoms of exposure to very high dose radiation?
- Intractable nausea
- confusion
- convulsions
- rapid onset of coma followed by death
Significance of methotrexate and radiation therapy co administration?
Combination of the two given concurrently or sequentially can act synergistically
