Parkinson's Parkinson's Research and Pathophysiology

Question 1

Which genetic mutation is the most common known cause of familial Parkinson's disease in the US and Europe?

Accepted Answer

LRRK2 (leucine-rich repeat kinase 2) mutation

Answer

LRRK2 mutations, particularly G2019S, are the most common genetic cause of familial Parkinson's disease in Western populations, accounting for about 1% of all Parkinson's cases.

Question 2

The Braak staging system for Parkinson's disease describes:

Accepted Answer

The caudal-to-rostral spread of Lewy body pathology through the brain

Answer

Braak staging proposes that Parkinson's pathology (Lewy bodies) begins in the gut and lower brainstem and spreads upward through the brain in a predictable pattern across six stages.

Question 3

What is the current leading hypothesis for how alpha-synuclein pathology spreads in Parkinson's disease?

Accepted Answer

Prion-like cell-to-cell transmission

Answer

The prion-like hypothesis proposes that misfolded alpha-synuclein propagates from cell to cell like a prion, seeding aggregation in neighboring neurons.

Question 4

Mitophagy dysfunction in Parkinson's disease is linked to mutations in which two genes?

Accepted Answer

PINK1 and Parkin

Answer

PINK1 and Parkin work together in a mitophagy pathway to clear damaged mitochondria; mutations in either gene cause autosomal recessive Parkinson's disease.

Question 5

GBA gene mutations in Parkinson's disease are significant because they:

Accepted Answer

Are the most common genetic risk factor for Parkinson's disease overall

Answer

GBA mutations (causing glucocerebrosidase enzyme deficiency) are the most common genetic risk factor for Parkinson's disease, found in 5–15% of patients, and are associated with faster progression.

Parkinson's Practice Test

Parkinson's Practice Test

Parkinson's Parkinson's Research and Pathophysiology