Establishing diagnostic criteria for Perry syndrome
#MMPMID29089398
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
J Neurol Neurosurg Psychiatry
2018[May]; 89
(5
): 482-487
PMID29089398
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OBJECTIVE: To establish international diagnostic criteria for Perry syndrome, a
disorder characterised by clinical signs of parkinsonism, depression/apathy,
weight loss, respiratory symptoms, mutations in the DCTN1 gene and TAR
DNA-binding protein 43 (TDP-43) pathology. METHODS: Data from the published
literature and newly identified patients were gathered and analysed during and
after the International Symposium on Perry syndrome in Tokyo to identify
diagnostic criteria for Perry syndrome. RESULTS: Eighty-seven patients with Perry
syndrome carrying DCTN1 mutations from 20 families were included in this study,
and common signs of the disorder were identified, including parkinsonism (95.2%
of patients), depression/apathy (71.4%), respiratory symptoms (66.7%) and weight
loss (49.2%). CONCLUSIONS: Based on our findings, we propose the following
definitive diagnostic criteria for Perry syndrome: the presence of four cardinal
signs of Perry syndrome, accompanied by a mutation in DCTN1; or a family history
of the disease, parkinsonism and a mutation in DCTN1; or the presence of four
cardinal signs and pathological findings that include nigral neuronal loss and
TDP-43 pathology. As patients with Perry syndrome present with uniform clinical,
genetic and pathological features, we further propose the disorder be termed
'Perry disease.'
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