Perry syndrome: A disorder to consider in the differential diagnosis of Parkinsonism

Aji, Baba M; Medley, Gillian; O’Driscoll, Kieran; Larner, A. J.; Alusi, Sundus

doi:10.1016/j.jns.2013.04.008

Cited by 18 publications

(3 citation statements)

References 18 publications

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“…He seemed to be a sporadic case and was suspected to have PSP at that time. He later developed weight loss and hypoventilation and was reported to have PS with a DCTN1 p.Gly67Asp mutation [30]. …”

Section: Atypical Phenotypes Of Perry Syndromementioning

confidence: 99%

DCTN1-related neurodegeneration: Perry syndrome and beyond

Konno

Ross

Teive

et al. 2017

Parkinsonism & Related Disorders

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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. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150Glued. Dynactin is a motor protein involved in axonal transport; the p150Glued subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought. Progressive supranuclear palsy- and/or frontotemporal dementia-like phenotypes have been associated with the PS phenotypes. In addition, DCTN1 mutations were identified in a family with motor-neuron disease before the discovery in PS. In this review, we analyze the clinical and genetic aspects of DCTN1-related neurodegeneration and discuss its pathogenesis. We also describe three families with PS, Canadian, Polish, and Brazilian. DCTN1 mutation was newly identified in two of them, the Canadian and Polish families. The Canadian family was first described in late 1970’s but was never genetically tested. We recently had the opportunity to evaluate this family and to test the gene status of an affected family member. The Polish family is newly identified and is the first PS family in Poland. Although still rare, DCTN1-related neurodegeneration needs to be considered in a differential diagnosis of parkinsonian disorders, frontotemporal dementia, and motor-neuron diseases, especially if there is family history.

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Section: Atypical Phenotypes Of Perry Syndromementioning

confidence: 99%

DCTN1-related neurodegeneration: Perry syndrome and beyond

Konno

Ross

Teive

et al. 2017

Parkinsonism & Related Disorders

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“…All reported mutations cluster in exon 2, the P150 glued highly conserved N‐terminal cytoskeleton‐associated protein, glycine‐rich domain, which serves as a parking brake of the dynein motor. It is a very rare cause of familial parkinsonism, with only five missense mutations reported (P.G71A/E/R, pT72P, and p.Q74P) in a handful of families worldwide . Histology shows severe neuronal loss in the SN without LBs and a unique distribution of TDP‐43‐positive pathology in neurons and glial cells in a pallidonigral distribution …”

Section: Autosomal Dominant Genesmentioning

confidence: 99%

“…It is a very rare cause of familial parkinsonism, with only five missense mutations reported (P.G71A/E/R, pT72P, and p.Q74P) in a handful of families worldwide. [94][95][96][97][98] Histology shows severe neuronal loss in the SN without LBs and a unique distribution of TDP-43-positive pathology in neurons and glial cells in a pallidonigral distribution. 99 Autosomal Recessive, Early-Onset (≤45 Years) Typical Parkinsonism…”

Section: Dynactinmentioning

confidence: 99%

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

Sheerin

Houlden

Wood

2014

Mov Disord Clin Pract

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Over the last 16 years, insights in clinical and genetic characteristics of Parkinson's disease (PD) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA, leucine‐rich repeat kinase 2, vacuolar protein sorting‐35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to parkin, PINK1, and DJ‐1, as well as autosomal recessive complicated parkinsonian syndromes caused by mutations in ATP13A2, FBXO7, PLA2G6, SYNJ1, and DNAJC6. We also review the advances in high‐ and low‐risk genetic susceptibility factors and present multisystem disorders that may present with parkinsonism as the major clinical feature and provide recommendations for prioritization of genetic testing. Finally, we consider the challenges of future genetic research in PD.

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Assessment with Cognitive Screening Instruments and Comparison of Scales

Larner

2014

Dementia in Clinical Practice: A Neurological Perspective

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Perry syndrome: A disorder to consider in the differential diagnosis of Parkinsonism

Cited by 18 publications

References 18 publications

DCTN1-related neurodegeneration: Perry syndrome and beyond

DCTN1-related neurodegeneration: Perry syndrome and beyond

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

Assessment with Cognitive Screening Instruments and Comparison of Scales

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