Cognitive and behavioral profile of Perry syndrome in two families

Milanowski, Łukasz; Sitek, Emilia J.; Dulski, Jarosław; Cerquera-Cleves, Catalina; Gómez, Juan Daniel; Brockhuis, Bogna; Schinwelski, Michał; Kluj-Kozłowska, Klaudia; Ross, Owen A.; Sławek, Jarosław; Wszołek, Zbigniew K.

doi:10.1016/j.parkreldis.2020.05.019

Cited by 7 publications

(16 citation statements)

References 32 publications

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“…The Colombian kindred has been reported previously [3,5,11]. The patient recently reported by Milanowski et al (indicated as III‐6) continued to deteriorate and required adjustment of antiparkinsonian medications due to troublesome motor fluctuations and dyskinesia (See Video S3).…”

Section: Resultsmentioning

confidence: 80%

“…The Colombian kindred has been reported previously [3,5,11] The neuropathological examination demonstrated pallidonigral degeneration with TDP-43 proteinopathy, pre-hippocampal sclerosis and minimal Alzheimer-type pathology (Figure 2). There was TDP-43 pathology in the hippocampus, with many fine neurites but minimal neuronal loss, consistent with so-called "pre-hippocampal sclerosis" [12].…”

Section: Colombian Familymentioning

confidence: 82%

“…Cognitive profiling of PS has only recently been described [5]. Patients with impaired cognition presented a frontostriatal pattern of decline, with executive functions, working memory and attention being the most affected [5]. Some patients suffered from impulse control disorder, disinhibition, hyperorality, stereotypies, and had primitive reflexes [1,5].…”

Section: Discussionmentioning

confidence: 99%

“…In 2009 mutations in exon 2 of the DCTN1 gene were identified [4]. The disease portends an ominous prognosis with an average duration of 5.5 years (ranging from 2 to 14 years) [5].…”

Section: Introductionmentioning

confidence: 99%

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Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Dulski

Cerquera-Cleves

Milanowski

et al. 2021

Euro J of Neurology

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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. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease. Methods: Data on new patients from New Zealand, Poland and Colombia were collected, including autopsy report. Also all of the published papers since the original work by Perry in 1975 were gathered and analyzed.Results: Parkinsonism was symmetrical, progressed rapidly and was poorly responsive to L-Dopa; nonetheless, a trial with high doses of L-Dopa is warranted. Depression was severe, associated with suicidal ideations, and benefited from antidepressants and L-Dopa. Respiratory symptoms were the leading cause of death, and artificial ventilation or a diaphragm pacemaker prolonged survival. Weight loss occurred in most patients and was of multifactorial etiology. Autonomic dysfunction was frequent but underdiagnosed.There was a clinical overlap with other neurodegenerative disorders. An autopsy showed distinctive pallidonigral degeneration with TDP-43 pathology. Genetic testing provided evidence of a common founder for two families. There was striking phenotypic variability in DCTN1-related disorders. It is hypothesized that oligogenic or polygenic inheritance is at play.

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Section: Resultsmentioning

confidence: 80%

Section: Colombian Familymentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

“…In 2009 mutations in exon 2 of the DCTN1 gene were identified [4]. The disease portends an ominous prognosis with an average duration of 5.5 years (ranging from 2 to 14 years) [5].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Dulski

Cerquera-Cleves

Milanowski

et al. 2021

Euro J of Neurology

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“…In Perry disease, parkinsonism, central hypoventilation, and weight loss [ 131 ] are accompanied by behavioral manifestations. The syndrome shares symptoms of PD, ALS and may fall into the FTLD spectrum [ 132 ].…”

Section: Interwoven Relations Between Tdp-43 and Parkinmentioning

confidence: 99%

Parkin beyond Parkinson’s Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

Gawęda-Walerych

Sitek

Narożańska

et al. 2021

Cells

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Parkin and PINK1 are key regulators of mitophagy, an autophagic pathway for selective elimination of dysfunctional mitochondria. To this date, parkin depletion has been associated with recessive early onset Parkinson’s disease (PD) caused by loss-of-function mutations in the PARK2 gene, while, in sporadic PD, the activity and abundance of this protein can be compromised by stress-related modifications. Intriguingly, research in recent years has shown that parkin depletion is not limited to PD but is also observed in other neurodegenerative diseases—especially those characterized by TDP-43 proteinopathies, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Here, we discuss the evidence of parkin downregulation in these disease phenotypes, its emerging connections with TDP-43, and its possible functional implications.

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Perry Disease: Expanding the Genetic Basis

Dulski

Koga

Liberski

et al. 2023

Movement Disord Clin Pract

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Background Perry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton‐associated protein glycine‐rich (CAP‐Gly) domain of the DCTN1 gene. Objectives This paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP‐Gly domain. Methods Clinical and pathological features of the new variant carrier are compared with another recently deceased PS case with a well‐known pathogenic DCTN1 mutation and other reported cases. Results and Conclusions We report a novel DCTN1 mutation outside the CAP‐Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings.

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Cognitive and behavioral profile of Perry syndrome in two families

Cited by 7 publications

References 32 publications

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Parkin beyond Parkinson’s Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

Perry Disease: Expanding the Genetic Basis

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