Perry Disease is a hereditary neurodegenerative disease with mutations in dynactin 1 (DCTN1).
(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)
(a) rapid disease progression (within 5 years of onset)
(b) age at onset less than 50 years
(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
A and E
A, B, C, D
A, B, C, D, E
a or b
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