Quiz Symposium 7. TDP-43 proteinopathies

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QUIZ QUESTIONS AS SUBMITTED BY THE INVITED SPEAKERS

1) Which of the following predict the presence of underlying FTLD-TDP pathology in a patient: *

1 point

A) Clinical features of FTD combined with ALS.

B) Presence of C9orf72 repeat expansion.

C) Semantic dementia.

D) All of the above

2) In clinicopathological studies of human autopsy material of patients with the C9orf72 repeat expansion, anatomical distribution of which pathological change correlates best with the clinical phenotype: *

1 point

A) TDP-43 pathology.

B) Dipepetide repeat pathology.

C) RNA foci.

3) Which statements about the neuropathology of ALS are correct (select all that apply)? *

1 point

A) ALS is defined by degeneration of neurons in the motor cortex, brainstem and spinal cord.

B) Glial neuropathology is part of consensus classifications of ALS-TDP and ALS-FTLD.

C) Abnormal TDP-43 processing and deposition in aggregates is the common downstream mechanism in all forms of ALS.

D) Brain donation and neuropathological studies of patients enrolled in genomic therapy trials for ALS should be built into any trial design.

Required

4) Assess the following statements about cell and system vulnerability to ALS (indicate which ones are correct): *

1 point

A) End-stage ALS, as encountered by the neuropathologist, is a multisystem disease, therefore questions of selective vulnerability are not relevant.

B) Sophisticated engineered mouse models of ALS can resolve the mechanisms involved in selective upper motor neuron vulnerability.

C) Certain genomic mechanisms involved in ALS can only be observed in human brain.

D) Compared to other neurodegenerative disorders, ALS has a very long subclinical phase that can be observed in routine autopsies of apparently healthy individuals.

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