Table 3.

Diagnostic criteria for Perry syndrome

Clinical features		Laboratory features
Cardinal	Supportive	Cardinal
(A) Parkinsonism	(a) Rapid disease progression within 5 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 positive genetic test (1) or presence of (A), (B), (C) and (D) plus cardinal laboratory features of positive genetic test (1) or presence of (A)–(D) plus cardinal laboratory features of TDP-43 pathology (2). If an evidence of other mutations or neurodegenerative disease pathology is present, there must also be both cardinal laboratory features.

Probable: presence of (A)–(E).

Possible: presence of (A) and (E) plus supportive clinical features of (a) or (b).

(A) Parkinsonism requires two or more among rigidity, tremor (with postural tremor acceptable), bradykinesia and postural instability. (C) Respiratory symptoms require exclusion of cardiac and pulmonary diseases.

TDP-43, TAR DNA-binding protein 43.