Autonomic failures in Perry syndrome with DCTN1 mutation

Ohshima, Sachiko; Tsuboi, Yoshio; Yamamoto, Akifumi; Kawakami, Masato; Farrer, Matthew J.; Kira, Jun Ichi; Shii, Hirofumi

doi:10.1016/j.parkreldis.2010.07.001

Cited by 26 publications

(22 citation statements)

References 10 publications

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“…However, striatal dopaminergic and cortical/subcortical serotonergic dysfunctions were indicated by positron emission tomography [18, 24]. Hypoperfusion in the frontal cortex and basal ganglia has also been detected using 123 I-single photon emission computed tomography [17], and transcranial sonography revealed hyperechogenicity of the substantia nigra, which is compatible to findings in PD [25]. …”

Section: Perry Syndromementioning

confidence: 86%

“…We collected DNA samples from all but one of the 7 families and from 2 additional families (Japan [Fukuoka 4] and US [Hawaii]) [16, 17]. Unfortunately, we could not obtain any DNA samples from the second Canadian (Ontario) kindred at that time since this family was lost for follow up.…”

Section: Perry Syndromementioning

confidence: 99%

“…In another Japanese (Fukuoka 4) kindred, the family members presented with dysautonomia (e.g. orthostatic hypotension, increased urinary frequency, anhidorosis) [17]. A patient from this family showed decreased cardiac metaiodobezylguanidine uptake, which is frequently observed in Lewy body diseases [23], indicating that sympathetic denervation could occur in PS.…”

Section: Perry Syndromementioning

confidence: 99%

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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: Perry Syndromementioning

confidence: 86%

Section: Perry Syndromementioning

confidence: 99%

Section: Perry Syndromementioning

confidence: 99%

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DCTN1-related neurodegeneration: Perry syndrome and beyond

Konno

Ross

Teive

et al. 2017

Parkinsonism & Related Disorders

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“…Therefore, Perry syndrome can be easily misdiagnosed as Parkinson’s disease, especially during early stage. The major death cause is central hypoventilation or pneumonia . The clinical characterizations of DCNT1‐related spectrum are summarized in Table .…”

Section: Discussionmentioning

confidence: 99%

New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

Tian

Liu

Zhou

et al. 2020

Ann Clin Transl Neurol

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Objective To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype–genotype relationship. Methods Patient 1 is a 23‐year‐old man with congenital foot deformity and life‐long distal muscle weakness and atrophy. Patient 2 is a 48‐year‐old woman with adult‐onset progressive weakness, lower limbs atrophy, and pyramid bundle signs. Electrophysiology test showed normal nerve conduction velocity of both patients and neurogenic changes in needle electromyography. Open sural nerve biopsy for Patient 1 showed slight loss of myelinated nerve fibers. Both patients were performed with whole‐exome sequencing followed by functional study of identified variants. Results Two mutations in DCTN1 gene were identified in Patient 1 (c.626dupC) and Patient 2 (c.3823C>T), respectively. In vitro, the wild type mostly located in cytoplasm and colocalized with α‐tubulin. However, c.626dupC tended to be trapped into nuclear and the c.3823C>T formed cytoplasmic aggregates, both losing colocalization with α‐tubulin. Western blotting showed a truncated mutant with less molecular weight of c.626dupC was expressed. Interpretation We identify two novel DCTN1 mutations causing different phenotypes: (1) early‐onset distal hereditary motor neuropathy plus congenital foot malformation and (2) amyotrophic lateral sclerosis, respectively. We provide the initial evidence that foot developmental deficiency probably arises from subcellular localizing abnormality of Dynactin 1, revealing DCTN1‐related spectrum is still expanding.

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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%

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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Autonomic failures in Perry syndrome with DCTN1 mutation

Cited by 26 publications

References 10 publications

DCTN1-related neurodegeneration: Perry syndrome and beyond

DCTN1-related neurodegeneration: Perry syndrome and beyond

New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

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

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