Table 3.

List of ODDD mutations linked to upper motor neuron dysfunction, tremor, gait disturbances, and spasticity, indicating neurodegeneration.

Mutant	PM presence and plaque formation	GJIC	HC function
D3N	Normal number of plaques	↓	n.a.
Y17S	Reduced presence in PM with reduced number of GJ plaques	X	X
G21R	Reduced number of GJ plaques	X	X
K23T	Normal GJ plaques	n.a.	n.a.
R33X	Not present in PM	X	X
A40V	Reduced number of GJ plaques	X	X
L90V	Normal GJ plaques	↓	X
H95R	n.a.	n.a.	n.a.
L106P	n.a.	n.a.	n.a.
L113P	n.a.	n.a.	n.a.
I130T	Increased presence in PM but reduced number of GJ plaques	↓	X
K134E/N	Reduced number of GJ plaques	↓	X
G138R	Increased presence in PM with normal number of GJ plaques	X	↑
T154A/N	Normal number of GJ plaques	↓	n.a.
V216L	Reduced number of GJ plaques	↓	n.a.

n.a., no data available.

X, absence of detectable GJIC or HC activity.