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• W4367302895 abstract "<h3>Objective:</h3> To present an update on the genetic, clinical, and pathological characteristics of Perry syndrome (PS). <h3>Background:</h3> PS is a rare inherited neurodegenerative disorder characterized by parkinsonism, apathy/depression, weight loss, and hypoventilation, with distinct molecular (<i>DCTN1</i> mutations located on exon 2 within CAP-Gly domain) and neuropathological (TDP-43 pathology) characteristics. <h3>Design/Methods:</h3> We studied 27 members of the large new kindred from Louisiana and a new isolated case from Virginia. We performed two postmortem examinations. <h3>Results:</h3> We identified 7 cases suspected of PS in the Lousiana family. The mean age of first symptoms was 54 years, with non-motor symptoms (weight loss, neuropsychiatric symptoms) being the most common initial manifestation. Parkinsonism was present in 7/7, neuropsychiatric features in 4/7, weight loss in 5/7, respiratory symptoms in 3/7, dysautonomia in 4/7, and sleep disorders in 7/7 patients. Smell testing was unremarkable. Proband and another case tested positive for a novel <i>DCTN1</i> p.Gly67Val mutation within the CAP-Gly domain; the results of other cases were underway. The autopsy of the proband confirmed TDP-43 proteinopathy with predominant pallido-nigro-luysial involvement. The patient from Virginia developed apathy at 58 years, followed by depression, parkinsonism with upgaze limitation and pyramidal signs, weight loss, and pauses in breathing. She died at 69, and the pathological evaluation at autopsy revealed TDP-43 pathology with pallidonigral involvement, consistent with PS with known mutations in the <i>DCTN1</i> gene. Her genetic testing found a novel <i>DCTN1</i> Gly42Ser mutation, located on exon 2 but beyond the CAP-Gly domain. As her parents were not affected, we presume it was a <i>de novo</i> mutation. <h3>Conclusions:</h3> The heterogeneity of clinical and genetic characteristics of PS is increasingly recognized. Better understanding of the disease could translate into enhanced management strategy, improved quality of life, and extended life expectancy. <b>Disclosure:</b> Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for VM Media Ltd.. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Radoslaw Lipinski 90 Consulting. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Ipsen. Dr. Dulski has received research support from Polish Neurological Society. Dr. Dulski has received research support from Polish National Agency for Academic Exchange. Dr. Koga has nothing to disclose. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AbbVie. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Alzheimer’s Tennessee. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Charlotte County Medical Society, Inc. Mr. Ali has nothing to disclose. Audrey Strongosky has nothing to disclose. Miss Rose has nothing to disclose. Ms. Parrales has nothing to disclose. Ms. Dunmore has nothing to disclose. Dr. Dickson has nothing to disclose. Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica." @default.
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• W4367302895 date "2023-04-25" @default.
• W4367302895 modified "2023-09-26" @default.
• W4367302895 title "Perry syndrome – the genetic, clinical, and pathological characteristics of the disease (P8-11.001)" @default.
• W4367302895 doi "https://doi.org/10.1212/wnl.0000000000203037" @default.
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