basal ganglia and cerebellum Flashcards
Huntingdon's disease: recall the pathophysiology and clinical signs of Huntingdon's disease
1
Q
what is Huntington’s disease and what causes it
A
genetic neurodegenerative disorder caused by a CAG repeat on chromosome 4 (autosomal dominant; 35 repeats will cause Huntington’s)
2
Q
what does Huntington’s disease cause
A
degeneration of GABAergic neurones in striatum: caudate and then putamen; can cause almost complete loss of anterior basal ganglia
3
Q
5 motor signs of Huntington’s disease
A
choreic movements (chorea), speech impairment, difficulty swallowing, unsteady gait, in later stages: cognitive decline and dementia
4
Q
what are choreic movements (chorea)
A
rapid jerky involuntary movements of body; hands and face affected first, then legs and rest of body (opposite of motor neurone disease as proximal to distal)
