XII. Du tremblement essentiel non familial

Myle, G; Bogaert, Ludo van

doi:10.1159/000148168

Cited by 22 publications

(9 citation statements)

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“…Third, therapeutically, cerebellar outflow (dentato‐rubro‐thalamic) pathways are the target of high‐frequency thalamic stimulators which are highly effective in treating ET 39. Finally, postmortem pathological study of ET cases has been scanty (14 published examinations),18, 40–46 and the majority of these reports are more than 50 years old, although in several of these,18, 40, 45, 46 there was evidence of cerebellar Purkinje cell pathology. This ranged from occasional (one case)18 to diffuse Purkinje cell loss (three cases),40, 45, 46 and one case demonstrated laminar cerebellar cortical atrophy 45.…”

Section: Nature Vs Nurturementioning

confidence: 99%

A Stable Chemical SUMO1–Ubc9 Conjugate Specifically Binds as a Thioester Mimic to the RanBP2–E3 Ligase Complex

et al. 2015

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Ubiquitin and ubiquitin-like (Ubl) modifiers such as SUMO are conjugated to substrate proteins by E1, E2, and E3 enzymes. In the presence of an E3 ligase, the E2∼Ubl thioester intermediate becomes highly activated and is prone to chemical decomposition, thus making biochemical and structural studies difficult. Here we explored a stable chemical conjugate of the E2 enzyme from the SUMO pathway, Ubc9, with its modifier SUMO1 as a structural analogue of the Ubc9∼SUMO1 thioester intermediate, by introducing a triazole linkage by biorthogonal click chemistry. The chemical conjugate proved stable against proteolytic cleavage, in contrast to a Ubc9-SUMO1 isopeptide analogue obtained by auto-SUMOylation. Triazole-linked Ubc9-SUMO1 bound specifically to the preassembled E3 ligase complex RanBP2/RanGAP1*SUMO1/Ubc9, thus suggesting that it is a suitable thioester mimic. We anticipate interesting prospects for its use as a research tool to study protein complexes involving E2 and E3 enzymes.

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Section: Nature Vs Nurturementioning

confidence: 99%

A Stable Chemical SUMO1–Ubc9 Conjugate Specifically Binds as a Thioester Mimic to the RanBP2–E3 Ligase Complex

et al. 2015

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“…The first published postmortem examination appeared in 1903 28. Between then and 1990, there were only seven additional reports,28–34 so that up to 17 years ago, there were fewer than 10 published pathological cases. A number of these cases exhibited unusual clinical features (e.g., choreiform movements) or evidence of other neurological disorders (e.g., marked dystonia),30, 31, 34 which casts doubt upon the clinical diagnosis of ET (Table 1).…”

Section: Postmortem Studiesmentioning

confidence: 99%

“…None of these studies compared the ET brains to control brains and all predated the use of α‐synuclein immunohistochemistry to identify Lewy bodies and Lewy neurites in the locus ceruleus (LC) and other brainstem structures. In the earlier literature, it was occasionally noted that Purkinje cell loss was mild33 or marked,30–32 but these investigations did not quantify Purkinje cells or torpedoes, which are fusiform swellings of Purkinje cell axons 45, 46…”

Section: Postmortem Studiesmentioning

confidence: 99%

“…Because Purkinje cell loss was noted in the early literature,30–33 and because segmental loss of Purkinje cells was observed in ETCBR cases,42 the same investigators undertook a more rigorous quantitative study of Purkinje cell linear density, using calbindin immunohistochemistry in ET cases and control brains. In that study,43 of 14 ETCBR ET cases and 11 controls, Purkinje cell linear density differed by diagnosis: controls (3.46 ± 1.27 cells/mm), LBVET (3.33 ± 1.06 cells/mm), and cerebellar ET (2.14 ± 0.82 cells/mm), P = 0.04, with the main difference being between cerebellar ET cases and controls, where the reduction in Purkinje cells was 38.2% ( P = 0.04) (see Fig.…”

Section: Postmortem Studiesmentioning

confidence: 99%

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Transient elastography for diagnosis of portal hypertension in liver cirrhosis

Lim

Groszmann

2007

Hepatology

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“…38 Third, therapeutically, cerebellar outflow (dentato-rubro-thalamic) pathways are the target of highfrequency thalamic stimulators which are highly effective in treating ET. 39 Finally, postmortem pathological study of ET cases has been scanty (14 published examinations), 18,[40][41][42][43][44][45][46] and the majority of these reports are more than 50 years old, although in several of these, 18,40,45,46 there was evidence of cerebellar Purkinje cell pathology. This ranged from occasional (one case) 18 to diffuse Purkinje cell loss (three cases), 40,45,46 and one case demonstrated laminar cerebellar cortical atrophy.…”

Section: Introduction To the Pathogenesis Of Etmentioning

confidence: 99%

Etiology of essential tremor: Should we be searching for environmental causes?

Louis

2001

Movement Disorders

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Essential tremor (ET) is an extremely common and widespread disorder.1 Its prevalence among individuals Ն65 years of age 2 is similar to that of osteoarthritis, 3 diabetes mellitus, 4 and Alzheimer's disease. 5 Also, it is a longstanding condition; humans have provided written commentary about their tremors for several thousand years. [6][7][8][9] Despite this, knowledge about the biology of this disorder remains limited. For example, the location of the primary pathology in ET is not known. It is not clear whether the problem originates in a central pacemaker in the brainstem and then secondarily involves the cerebellum, or whether the cerebellum or other central structure is the site of the primary pathology. 10 One problem is that a specific degenerative neuronal population has not been identified. In terms of etiology, while most investigators would agree that a genetic predisposition contributes to the etiology in a sizeable proportion of ET cases,11,12 whether this represents 10%, 50%, or 90% of cases is not known. 13Nature vs. Nurture How much do genetic vs. non-genetic factors contribute to the etiology of ET? There are published examples of families in which multiple relatives have ET [14][15][16][17] and in which the pattern of inheritance is most consistent with an autosomal dominant model. In a small number of these, [15][16][17] linkage has been demonstrated to regions on chromosomes 2p or 3q. It is commonly stated in the literature that 50% of ET cases occur on a genetic basis, although the studies examining this issue have methodological flaws, and some estimates are as low as 17%. 13Most important is that these studies have not enrolled control subjects, so it is not known to what extent familial occurrence of ET is explained by chance co-occurrence of a highly prevalent disorder rather than a genetic predisposition for tremor. 13ET is not completely genetic. The entity of nonfamilial ET or "sporadic" ET is well recognized by most clinicians, who distinguish this form of ET from "hereditary" ET. 11,16,18 In fact, in most series, the majority (>50%) of ET cases have not reported affected relatives, 3,[19][20][21][22] and despite the high prevalence of the disease, families that are informative for genetic linkage studies have been difficult to locate. The existence of intrafamilial differences in age of onset and severity of tremor 23,24 also suggests that environmental (or perhaps other genetic) factors may serve as modifiers of an underlying susceptibility genotype.The existence of geographic clusters of ET cases could provide further support for the notion that environmental factors contribute to the etiology of ET in these geographic regions. A large cluster of ET cases has been reported 20,25 to occur in a region of the Eastern Highlands of Papua New Guinea. In the population defined by possession of one or other of the following languages, Kamano, Ayuna, Gadsup, Tairo, or Agarabe, the prevalance of ET is 22.6 times higher than that of other areas of the Highlands (e.g., Fore, Keiagana-Kanite...

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XII. Du tremblement essentiel non familial

Cited by 22 publications

References 0 publications

A Stable Chemical SUMO1–Ubc9 Conjugate Specifically Binds as a Thioester Mimic to the RanBP2–E3 Ligase Complex

A Stable Chemical SUMO1–Ubc9 Conjugate Specifically Binds as a Thioester Mimic to the RanBP2–E3 Ligase Complex

Transient elastography for diagnosis of portal hypertension in liver cirrhosis

Etiology of essential tremor: Should we be searching for environmental causes?

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