Basal Ganglia

Question 1

Pattern of inheritance of Huntigton’s chorea is ……, with a course leading to death after …..

Answer 1

Autosomal dominant
15 years

Question 2

Cognitive symptoms of Huntington’s is …..while behavioural is …..

Answer 2

Severe dementia
Suicide

Question 3

Compare pathogensis of Huntington & Parkinson

Answer 3

H, CAG trinucleotide repeat expansion of gene encoding huntigtin protein
P, point mutation & duplication of gene encoding alpha-synuclein, a protein involved in synaptic transmission, this cause AD PD, there is also AR form

Question 4

Describe Huntington grossly

Answer 4

There is striking atrophy of caudate nucleus less dramatically seen in putamen. Lateral & 3rd ventricles are dilated. Frequently there is atrophy of cortex, less seen in parietal lobe or may involve entire cortex.

Question 5

Describe PD grossly

Answer 5

Pallor of the substantia nigra

Question 6

Describe microscopic picture of Huntington

Answer 6

Severe loss of GABA releasing neurons with reactive gliosis. There are intranuclear inclusions containing aggregates of ubiquitinated huntingtin protein

Question 7

Describe microscopic picture of PD

Answer 7

Loss of pigmented catecholaminergic neurons associated with gliosis. There are Lewy bodies in remaining neurons which are intracytoplasmic eosinophilic inclusions which are round to elongated have dense core surrounded by pale halo. They contain alpha-synuclein.