Perry Disease is a hereditary neurodegenerative disease with mutations in dynactin 1 (DCTN1).
Cardinal criteria:
(A) Parkinsonism
(B) apathy or depression
(C) respiratory symptomswith central hypoventilation AND exclusion of cardiac and pulmonary disease
(D) unexpected weight loss
(E) positive family history of Parkinsonism or respiratory symptoms (autosomal dominant inheritance)
Supportive criteria:
(a) rapid disease progression (within 5 years of onset)
(b) age at onset less than 50 years
Laboratory criteria:
(1) mutation in DCTN1 gene (dynactin 1 gene)
(2) brain biopsy showing nigral neuronal loss and TDP-43 (transactive response DNA binding protein) immunohistochemical staining in the brainstem and basal ganglia
Cardinal Criteria
Supportive Criteria
Laboratory Criteria
Diagnosis
A and E
1
definite
A, B, C, D
1
definite
A, B, C, D
2
definite
A, B, C, D, E
probable
A and E
a or b
possible
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