Table 3.

Diagnostic criteria of Perry disease

Clinical features				Laboratory features
Cardinal		Supportive		Cardinal
	A) Parkinsonism*		a) Rapid disease progression within five years of onset		1) Genetic test: mutation in the DCTN1 gene
	B) Apathy or depression		b) Onset younger than 50 years		2) Pathology: nigral neuronal loss and TDP-43 pathology in the brainstem and basal ganglia
	C) Respiratory symptoms†
	D) Unexpected weight loss
	E) Positive family history of parkinsonism or respiratory symptoms

Definite: presence of A) and E) plus cardinal laboratory features of 1) positive genetic test or presence of A), B), C), and D) plus cardinal laboratory features of 1) positive genetic test or presence of A), B), C), and D) plus cardinal laboratory features of 2) TDP-43 pathology. If evidence of other mutations or neurodegenerative disease pathology is present, both cardinal laboratory features must also be observed. Probable: presence of A), B), C), D), and E). Possible: presence of A) and E) plus supportive clinical features of a) or b).

^*parkinsonism requires two or more among rigidity, tremor (with postural tremor acceptable), bradykinesia, and postural instability,

^†respiratory symptoms require the exclusion of cardiac and pulmonary diseases.

DCTN1: dynactin I gene, TDP-43: transactive-response DNA-binding protein of 43 kD.