Parkinsonism in autoimmune diseases

Barba, Chrysanthi; Alexopoulos, Harry

doi:10.1016/bs.irn.2019.10.015

Cited by 6 publications

(7 citation statements)

References 105 publications

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“…The later age at onset and the frontal features caused by DCTN1 mutations are shared by patients with other mutations in genes implicated in frontotemporal dementia/parkinsonism, such as GRN and C9ORF72 21 . In addition, weight loss and hypoventilation present in patients with DCTN1 mutations are typically also found in patients with stiffness or atypical parkinsonism because of DPPX and IGLON5 antibodies, respectively 22‐24 …”

Section: Discussionmentioning

confidence: 99%

“…21 In addition, weight loss and hypoventilation present in patients with DCTN1 mutations are typically also found in patients with stiffness or atypical parkinsonism because of DPPX and IGLON5 antibodies, respectively. [22][23][24] When comparing clinically typical dominant (PARK-SNCA, PARK-LRRK2, PARK-VPS35) 1 and recessive (PARK-Parkin, PARK-PINK1, and PARK-DJ1) 2 forms of monogenic PD with the atypical forms investigated here, the AAO was lowest overall in the recessive atypical group, with a median AAO of 16 years, followed by the recessive typical forms (31 years), the dominant atypical (49 years) and the dominant typical (55 years) forms and is highest in patients with nonmonogenic atypical parkinsonism (64 years). Moreover, combining all available data on AAO for both monogenic typical and atypical forms revealed that for all recessive forms, median AAO was before 40 years and for almost all dominant forms, it was after 40 years (Fig.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

et al. 2021

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A BS TRACT: This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated ("bagged") decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95% CI, 86.3%-86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10 −12 ) and levodopa response less favorable than in patients with monogenic typical presentations (49% vs 93%). In addition, we compared monogenic to nonmonogenic atypical parkinsonism using data from 362 patients with progressive supranuclear gaze palsy, corticobasal degeneration, multiple system atrophy, or frontotemporal lobar degeneration. Although these conditions share many clinical features with the monogenic atypical forms, they can typically be distinguished based on their later median age at onset (64 years; IQR, 57-70 years). In conclusion, age at onset, presence of specific signs, and degree of levodopa response inform differential diagnostic considerations and genetic testing indications in atypical forms

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

et al. 2021

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“…Concerning systemic or organ-specific autoimmune diseases, parkinsonism may be observed in systemic lupus erythematosus, polymyalgia rheumatica, antiphospholipid syndrome, Sjogren's syndrome, neuro-Behçet disease, and other conditions [24,[94][95][96][97][98]. In most of these conditions, parkinsonism is a manifestation within the spectrum of each disorder and is attributed to the action of humoral and cellular immunity, which may affect the basal ganglia, although the exact antigenic target within the central nervous system has not yet been identified [95,96].…”

Section: Autoimmune Diseasesmentioning

confidence: 99%

“…neurological conditions, including Alzheimer's dementia (AD) and motor neuron diseases (MNDs) [19]. There are also many reports of parkinsonism in the setting of autoimmune or infectious disease of the central nervous system, as well as idiopathic normal pressure hydrocephalus (iNPH) and cerebrovascular disease (broadly referred to as secondary parkinsonism) [20][21][22][23][24][25][26]. In addition, parkinsonism can also result from permanent structural brain damage due to other conditions [27].…”

Section: Introductionmentioning

confidence: 99%