Browsing by Author "Groen, Justus (7103413430)"

Background and purpose: Daily management of patients with foot drop due to peroneal nerve entrapment varies between a purely conservative treatment and early surgery, with no high-quality evidence to guide current practice. Electrodiagnostic (EDX) prognostic features and the value of imaging in establishing and supplementing the diagnosis have not been clearly established. Methods: We performed a literature search in the online databases MEDLINE, Embase, and the Cochrane Library. Of the 42 unique articles meeting the eligibility criteria, 10 discussed diagnostic performance of imaging, 11 reported EDX limits for abnormal values and/or the value of EDX in prognostication, and 26 focused on treatment outcome. Results: Studies report high sensitivity and specificity of both ultrasound (varying respectively from 47.1% to 91% and from 53% to 100%) and magnetic resonance imaging (MRI; varying respectively from 31% to 100% and from 73% to 100%). One comparative trial favoured ultrasound over MRI. Variable criteria for a conduction block (>20%–≥50) were reported. A motor conduction block and any baseline compound motor action potential response were identified as predictors of good outcome. Based predominantly on case series, the percentage of patients with good outcome ranged 0%–100% after conservative treatment and 40%−100% after neurolysis. No study compared both treatments. Conclusions: Ultrasound and MRI have good accuracy, and introducing imaging in the standard diagnostic workup should be considered. Further research should focus on the role of EDX in prognostication. No recommendation on the optimal treatment strategy of peroneal nerve entrapment can be made, warranting future randomized controlled trials. © 2021 European Academy of Neurology

Background and purpose: Daily management of patients with foot drop due to peroneal nerve entrapment varies between a purely conservative treatment and early surgery, with no high-quality evidence to guide current practice. Electrodiagnostic (EDX) prognostic features and the value of imaging in establishing and supplementing the diagnosis have not been clearly established. Methods: We performed a literature search in the online databases MEDLINE, Embase, and the Cochrane Library. Of the 42 unique articles meeting the eligibility criteria, 10 discussed diagnostic performance of imaging, 11 reported EDX limits for abnormal values and/or the value of EDX in prognostication, and 26 focused on treatment outcome. Results: Studies report high sensitivity and specificity of both ultrasound (varying respectively from 47.1% to 91% and from 53% to 100%) and magnetic resonance imaging (MRI; varying respectively from 31% to 100% and from 73% to 100%). One comparative trial favoured ultrasound over MRI. Variable criteria for a conduction block (>20%–≥50) were reported. A motor conduction block and any baseline compound motor action potential response were identified as predictors of good outcome. Based predominantly on case series, the percentage of patients with good outcome ranged 0%–100% after conservative treatment and 40%−100% after neurolysis. No study compared both treatments. Conclusions: Ultrasound and MRI have good accuracy, and introducing imaging in the standard diagnostic workup should be considered. Further research should focus on the role of EDX in prognostication. No recommendation on the optimal treatment strategy of peroneal nerve entrapment can be made, warranting future randomized controlled trials. © 2021 European Academy of Neurology

Objective: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. Methods: Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow-up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real-time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients. Results: The disease-causing gene was mapped to a 23cM region on chromosome 19p13.3-p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta-4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls. Interpretation: A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so-called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. © 2013 American Neurological Association.

Objective: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. Methods: Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow-up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real-time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients. Results: The disease-causing gene was mapped to a 23cM region on chromosome 19p13.3-p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta-4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls. Interpretation: A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so-called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. © 2013 American Neurological Association.