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DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T, Ross OA, Teive HAG, Sławek J, Dickson DW, Wszolek ZK. Konno T, et al. Parkinsonism Relat Disord. 2017 Aug;41:14-24. doi: 10.1016/j.parkreldis.2017.06.004. Epub 2017 Jun 12. Parkinsonism Relat Disord. 2017. PMID: 28625595 Free PMC article. Review.
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. ...
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatr …
Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.
Dulski J, Cerquera-Cleves C, Milanowski L, Kidd A, Sitek EJ, Strongosky A, Vanegas Monroy AM, Dickson DW, Ross OA, Pentela-Nowicka J, Sławek J, Wszolek ZK. Dulski J, et al. Eur J Neurol. 2021 Dec;28(12):4010-4021. doi: 10.1111/ene.15048. Epub 2021 Aug 26. Eur J Neurol. 2021. PMID: 34342072 Free PMC article. Review.
BACKGROUND AND PURPOSE: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. ...
BACKGROUND AND PURPOSE: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by …
Cytoplasmic dynein in neurodegeneration.
Eschbach J, Dupuis L. Eschbach J, et al. Pharmacol Ther. 2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004. Epub 2011 Mar 21. Pharmacol Ther. 2011. PMID: 21420428 Review.
This includes notably mutations in the P150Glued subunit of dynactin that are found in Perry syndrome and motor neuron diseases. Interestingly, gene products that are mutant in Huntington's disease, Parkinson's disease, motor neuron disease or spino-cerebellar ataxi …
This includes notably mutations in the P150Glued subunit of dynactin that are found in Perry syndrome and motor neuron disease …
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review.
Wider C, Wszolek ZK. Wider C, et al. Parkinsonism Relat Disord. 2008;14(1):1-7. doi: 10.1016/j.parkreldis.2007.07.014. Epub 2007 Sep 17. Parkinsonism Relat Disord. 2008. PMID: 17870652 Review.
Autosomal dominant parkinsonism, hypoventilation, depression and weight loss (Perry syndrome) has been reported in only seven families worldwide. ...
Autosomal dominant parkinsonism, hypoventilation, depression and weight loss (Perry syndrome) has been reported in only seven …
Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.
Mishima T, Fujioka S, Fukae J, Yuasa-Kawada J, Tsuboi Y. Mishima T, et al. Int J Mol Sci. 2018 Dec 4;19(12):3870. doi: 10.3390/ijms19123870. Int J Mol Sci. 2018. PMID: 30518093 Free PMC article. Review.
In this review, we summarize recent findings from iPSC-based modeling of PD and several atypical parkinsonian syndromes including multiple system atrophy, frontotemporal dementia and parkinsonism linked to chromosome 17 and Perry syndrome. Furthermore, we discuss fu …
In this review, we summarize recent findings from iPSC-based modeling of PD and several atypical parkinsonian syndromes including multiple s …
Differential diagnosis of Parkinson's disease and other neurodegenerative disorders.
Koh J, Ito H. Koh J, et al. Nihon Rinsho. 2017 Jan;75(1):56-62. Nihon Rinsho. 2017. PMID: 30566295 Review. English, Japanese.
We also described the features of rare but important differential diagnoses: neuronal intranuclear inclusion disease, Perry syndrome, Fragile X tremor/ataxia syndrome, Huntington's disease, dopa-responsive dystonia, Wilson disease, and neurodegeneration wit,1 brain …
We also described the features of rare but important differential diagnoses: neuronal intranuclear inclusion disease, Perry syndro …
[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?].
Taussig D, Planté-Bordeneuve V. Taussig D, et al. Presse Med. 1997 Mar 1;26(6):290-6. Presse Med. 1997. PMID: 9122134 Review. French.
RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. ...
RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and w …