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Neurologie B2 > FXTAS > Flashcards

FXTAS Flashcards

1
Q

Oorzaak FXTAS

A

FMR1-gen mutatie

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2
Q

FXTAS Symptomen

A

Positie of intentietremor en gangataxie (+ parkinsonisme en cognitieve achteruitgang)

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3
Q

FXTAS - Radiologische afwijkingen

A

Symmetrische cerebellaire peduncle afwijkingen

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4
Q

FXTAS - Overerving

A

Repeatexpansieaandoening, anticipatie, geslachtsgebonden doorgegeven en maternale expansie.

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Neurologie B2 (35 decks)

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