Perry syndrome is characterised by rapidly progressive parkinsonism often accompanied by depression/apathy, weight loss and central hypoventilation.
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.
References:
- Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y. Establishing diagnostic criteria for Perry syndrome. J Neurol Neurosurg Psychiatry. 2018 May;89(5):482-487. [Medline]
- Konno T, Ross OA, Teive HAG, Sławek J, Dickson DW, Wszolek ZK. DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism Relat Disord. 2017 Aug;41:14-24. [Medline]
Created Apr 18, 2018.
