Degenerative diseases

Question 1

common features of degenerative disorders

Answer 1

progressive gradual idiopathic and often symmetric loss of specific neurons. often affected neurons possess abnormal inclusions.

Question 2

Alzheimer’s disease: potential pathogenic causes

Answer 2

beta amyloid accumulation from long arm of chromosome 21

also associated with the apolipoprotein E4

Question 3

Pathologic features of Alzheimer’s disease

Answer 3

bilateral symmetric atrophy of frontal and temporal lobes and hippocampi. hydrocephalus ex vacuo.
loss of neurons in the basal nucleus of Meyner, a major source of cholinergic input to the cortex

Question 4

Microscopic markers of Alzheimer’s

Answer 4

neurofibrillary tangles (inside of cells). hyperphosphorylation of tau leads formation of filaments in neurons and axons. Amyloid beta may form neuritic plaques (outside of cells)

Question 5

Frontotemporal dementias

Answer 5

frontal and temporal atrophy. used to all be called Pick’s dementias; now Pick’s dementia refers only to dementias with Pick bodies. Includes some familial tau-opathies. Clincally, see deterioration in personality and social function. Initially, memory is preserved. depression common.

Question 6

Pick’s disease pathology

Answer 6

brain atrophy of the orbitofrontal and anterior temporal regions. neuronal loss, spherical intracytoplasmic lesions (Pick bodies)

Question 7

Chromosome for huntington’s disease. type of neuron lost.

Answer 7

chromosome 4

GABA spiny type neurons lost

Question 8

Microscopic pathology of PD

Answer 8

intracytoplasmic eosinophilic and spherical inclusions. Lewy bodies have a central dense core surrounded by a clear halo. reactive for alpha synuclein

Question 9

Dementia with lewy bodies

Answer 9

LBs present in the cerebral cortex
progressive cognitive decline
visual hallucinations, variation in attention/alertness, and parkinsonism may be present

Question 10

Progressive supranuclear palsy

Answer 10

impaired vertical eye movements. dementia late in the disease. atrophy of subthalamic nucleus, globus pallidus, and brain stem nuclei neuronal and glial tau accumulation

Question 11

Multiple systems atrophy

Answer 11

striatonigral degeneration, olivopontocerebellar atrophy,: parkinsonism, cerebellar and autonomic dysfunction. alpha synuclein in oligodendroglia in these 3 locations.

Question 12

Friedrich ataxia

Answer 12

autosomal recessive, usually
trinucleotide repeat disorder
begins during 2nd decade
dead by end of 3rd decade
heart is affected
mixed cerebellar and sensory ataxia due to peripheral neuropathy.
spinal cord thin from loss of ascending and descending meylinated fiber tracts. fewer neurons in clarke’s columns and DRGs.

Question 13

Infantile spinal muscular atrophy

Answer 13

aka Werdnig-Hoffman disease
floppy infant
muscle weakness and wasting. chest wall collapses. death by 2 due to resp failure