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211 citation(s) found for "Williamson, B".

Improved technical outcomes with converting thrombectomy techniques after failed first pass recanalization
Matsukawa, Hidetoshi , Matouk, Charles , Uchida, Kazutaka , Kasab, Sami Al , Sowlat, Mohammad‐Mahdi , Elawady, Sameh Samir , Maier, Ilko , Jabbour, Pascal , Kim, Joon‐Tae , Wolfe, Stacey Q , Rai, Ansaar , Starke, Robert M., Psychogios, Marios‐Nikos, Howard, B, Tanweer, Omar , Polifka, Adam , Crosa, Roberto , Park, Min S. , Brinjikji, Waleed , Williamson, Richard , Kan, Peter , Chowdhry, Shakeel , Ezzeldin, Mohamad , Spiotta, Alejandro M , Yoshimura, Shinichi , Al Kasab, Sami , Rai, Ansaar , Arthur, Adam Stephen , Cuellar-Saenz, Hugo H , Mascitelli, Justin R , Fragata, Isabel , Osbun, Joshua W , Crosa, Roberto , Levitt, Michael R , Brinjikji, Waleed , Navia, Pedro , Kan, Peter , De Leacy, Reade , Ezzeldin, Mohamad , Spiotta, Alejandro M , Alawieh, Ali M , Matouk, Charles , Wolfe, Stacey Quintero , Matsukawa, Hidetoshi , Sowlat, Mohammad-Mahdi , Jabbour, Pascal , Samaniego, Edgar A , Cuellar, Hugo , Howard, Brian M., Romano, Daniele Giuseppe , Fragata, Isabel , Levitt, Michael R. , Moss, Mark, Navía, Pedro , Leacy, Reade De , Alawieh, Ali

Mayo Clinic

Journal of NeuroInterventional Surgery | September 20, 2024 | Volume: 17 | Issue: 12 | Pages: 1333-1339

10.1136/jnis-2024-022071 | PMID 39304195 Get It

Background A higher number of recanalization attempts reduces the efficacy of endovascular thrombectomy (EVT) for acute ischemic stroke secondary to large vessel occlusion (LVO). We assessed the impact of switching EVT techniques after a failed first pass on procedural and clinical outcomes. Methods This multicenter international study, conducted between January 2013 and December 2022, included patients undergoing EVT for anterior circulation LVO (internal carotid artery or M1 segments) with failed first pass recanalization. Propensity score matching identified a 1:1 matched cohort of patients in whom EVT technique was changed after a failed first pass and those with the same technique repeated. The primary outcome was successful recanalization at second attempt defined as Thrombolysis in Cerebral Ischemia (TICI) score of 2B or higher. Secondary outcomes were 90-day modified Rankin Score (mRS) and postprocedural hemorrhage. Results Among 2167 patients, converting to an alternative technique after a failed first pass was associated with higher odds of successful recanalization (adjusted OR (aOR)=1.5, p=0.041), and higher odds of mRS 0–2 at 90 days (aOR=1.6, p=0.005) without additional risk of symptomatic hemorrhage (p=0.379). Using a propensity score matched cohort of 490 patients, technique conversion at second attempt increased odds of successful recanalization at second attempt (aOR=1.32, p=0.006) and 90-day mRS 0–2 (aOR=1.38, p=0.008). Conclusions Early conversion to an alternative EVT technique after a failed first pass recanalization in patients with AIS is associated with better technical success and clinical outcomes.
The effect of intravenous thrombolysis in stroke patients with unsuccessful thrombectomy
Elawady, Sameh Samir , Kasem, Rahim Abo , Sowlat, Mohamed Mahdi, Nawabi, Noah, Venegas, Joshua M. , Isidor, Julio , Loulida, Hasna , Maier, Ilko , Kim, Joon-Tae , Wolfe, Stacey Q , Rai, Ansaar, Starke, Robert M. , Psychogios, Marios‐Nikos, Yoshimura, Shinichi , Alaraj, Ali , Ezzeldin, Mohamad , Tanweer, Omar , Polifka, Adam , Siddiqui, Fazeel , Crosa, Roberto , Park, Min S. , Brinjikji, Waleed , Moss, Mark, Dağlıoğlu, Ergün , Williamson, Richard , Kan, Peter, Chowdhry, Shakeel , Altschul, David , Spiotta, Alejandro M , Kasab, Sami Al , Venegas, Joshua M , Wolfe, Stacey Quintero , Yoshimura, Shinichi , Cuellar-Saenz, Hugo H , Alaraj, Ali , Ezzeldin, Mohamad , Fragata, Isabel , Grandhi, Ramesh , Matouk, Charles , Altschul, David J , Crosa, Roberto , Abo Kasem, Rahim , Matsukawa, Hidetoshi , Cunningham, Conor M. , Orscelik, Atakan , Jabbour, Pascal , Rai, Ansaar , Samaniego, Edgar A , Goyal, Nitin , Cuellar, Hugo , Howard, Brian M , Alawieh, Ali , Romano, Daniele Giuseppe , Mascitelli, Justin R , Fragata, Isabel , Osbun, Joshua W , Grandhi, Ramesh , Matouk, Charles , Levitt, Michael R. , Navía, Pedro , Leacy, Reade De

Mayo Clinic

Interventional Neuroradiology | September 13, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1177/15910199241279009 | PMID 39262342 Get It

Background The benefit of intravenous thrombolysis (IVT) is well established. We aim to study the benefits of IVT in acute ischemic stroke (AIS) patients with large vessel occlusion (LVO) who underwent unsuccessful mechanical thrombectomy (MT). Methods We included AIS patients who underwent MT for anterior circulation LVO with failed recanalization (modified treatment in cerebral ischemia [mTICI] score ≤ 2A). Patients who received IVT prior to MT were compared to those who received MT alone. Propensity score matching using demographic, clinical, radiographic and procedural variables was used to match patients with and without IVT. The primary outcome was favorable 90-day good functional outcome (defined as modified Rankin scale of 0–2), and secondary outcomes included intracranial hemorrhage (ICH), symptomatic ICH (sICH), and 90-day mortality. Results Totally, 610 AIS patients with unsuccessful MT were included. After propensity matching, 219 patients were identified in each group. Median age was 70 years and 73 years in the IVT + MT and MT alone groups, respectively. In the IVT + MT group, final mTICI scores of 0, 1, and 2A were achieved in 92 (42.0%), 33 (15.1%), and 94 (42.9%) patients, respectively, versus 76 (34.7%), 29 (13.2%), and 114 (52.1%) in the MT alone group. The IVT + MT group had greater odds of 90-day good functional outcome (adjusted odds ratio 2.54, 95% confidence interval 1.53–4.32). There were no significant differences in secondary outcomes. Conclusions IVT is associated with improved functional outcomes in AIS patients with LVO despite unsuccessful MT.
Comparison of combined intravenous and intra-arterial thrombolysis with intravenous thrombolysis alone in stroke patients undergoing mechanical thrombectomy: a propensity-matched analysis
Elawady, Sameh Samir , Kasem, Rahim Abo , Mulpur, Bhageeradh , Matsukawa, Hidetoshi , Sowlat, Mohammad‐Mahdi , Orscelik, Atakan , Nawabi, Noah, Isidor, Julio , Maier, Ilko , Jabbour, Pascal , Kim, Joon‐Tae , Wolfe, Stacey Q , Rai, Ansaar, Starke, Robert M. , Psychogios, Marios‐Nikos, Yoshimura, Shinichi , Alaraj, Ali , Ezzeldin, Mohamad , Tanweer, Omar , Polifka, Adam , Siddiqui, Fazeel , Crosa, Roberto , Brinjikji, Waleed , Moss, Mark, Dağlıoğlu, Ergün , Williamson, Richard A., Kan, Peter , Chowdhry, Shakeel , Altschul, David , Spiotta, Alejandro M , Abo Kasem, Rahim , Matsukawa, Hidetoshi , Sowlat, Mohammad-Mahdi , Orscelik, Atakan , Maier, Ilko , Jabbour, Pascal , Wolfe, Stacey Quintero , Cuellar-Saenz, Hugo H , Howard, Brian M , Alaraj, Ali , Mascitelli, Justin R , Fragata, Isabel , Osbun, Joshua W , Grandhi, Ramesh , Crosa, Roberto , Matouk, Charles , Brinjikji, Waleed , Navia, Pedro , Kan, Peter , De Leacy, Reade , Altschul, David J , Spiotta, Alejandro M , Levitt, Michael R , Cunningham, Conor M. , Jabbour, Pascal , Rai, Ansaar , Samaniego, Edgar A , Cuellar, Hugo , Alawieh, Ali , Romano, Daniele Giuseppe , Fragata, Isabel , Grandhi, Ramesh , Matouk, Charles , Park, Min S. , Williamson, Richard, Navía, Pedro , Leacy, Reade De , Levitt, Michael R. , Goyal, Nitin

Mayo Clinic

Journal of NeuroInterventional Surgery | August 23, 2024 | Volume: 17 | Issue: e2 | Pages: e261-e268

10.1136/jnis-2024-021975 | PMID 39179373 Get It

Background A combination of intravenous (IVT) or intra-arterial (IAT) thrombolysis with mechanical thrombectomy (MT) for acute ischemic stroke due to large vessel occlusion (AIS-LVO) has been investigated. However, there is limited data on patients who receive both IVT and IAT compared with IVT alone before MT. Methods STAR data from 2013 to 2023 was utilized. We performed propensity score matching between the two groups. The primary outcomes were symptomatic intracranial hemorrhage (sICH) and 90-day modified Rankin Scale (mRS) score 0–2. Secondary outcomes included successful recanalization (modified treatment in cerebral infarction (mTICI) ≥2B, ≥2C), early neurological improvement, any intracranial hemorrhage (ICH), and 90-day mortality. Results A total of 2454 AIS-LVO patients were included. Propensity matching yielded 190 well-matched patients in each group. No significant differences were observed between the groups in either ICH or sICH (odds ratio (OR): 0.80, 95% confidence interval (CI) 0.51–1.24, P=0.37; OR: 0.60, 95% CI 0.29 to 1.24, P=0.21, respectively). Rates of successful recanalization and early neurological improvement (ENI) were significantly lower in MT+IVT + IAT. mRS 0–1 and mortality were not significantly different between the two groups. However, the MT+IVT + IAT group demonstrated superior rates of good functional outcomes (90-day mRS 0–1) compared with patients in the MT+IVT group who had mTICI ≤2B, (OR: 2.18, 95% CI 1.05 to 3.99, P=0.04). Conclusion The combined use of IAT and IVT thrombolysis in AIS-LVO patients undergoing MT is safe. Although the MT+IVT+ IAT group demonstrated lower rates of recanalization and early neurological improvement, long-term functional outcomes were favorable in this group suggesting a potential delayed benefit of IAT.
Clinical and radiographic outcomes after mechanical thrombectomy in medium-vessel posterior cerebral artery occlusions: Subgroup analysis from STAR
Findlay, Matthew C, Maier, Ilko , Jabbour, Pascal , Kim, Joon‐Tae , Wolfe, Stacey Q , Rai, Ansaar, Starke, Robert M. , Psychogios, Marios‐Nikos , Yoshimura, Shinichi , Alaraj, Ali , Ezzeldin, Mohamad , Tanweer, Omar , Polifka, Adam , Siddiqui, Fazeel , Crosa, Roberto , Park, Min S. , Levitt, Michael R. , Brinjikji, Waleed , Moss, Mark, Dağlıoğlu, Ergün , Williamson, Richard , Navía, Pedro , Kan, Peter , Chowdhry, Shakeel , Altschul, David , Spiotta, Alejandro M , Wolfe, Stacey Quintero , Yoshimura, Shinichi , Cuellar-Saenz, Hugo H , Alaraj, Ali , Ezzeldin, Mohamad , Fragata, Isabel , Matouk, Charles , Altschul, David J , Grandhi, Ramesh , Levitt, Michael R , Crosa, Roberto , Navia, Pedro , Almallouhi, Eyad , Findlay, Matthew C. , Jabbour, Pascal , Rai, Ansaar , Shaban, Amir , Goyal, Nitin , Cuellar, Hugo , Howard, Brian M , Alawieh, Ali , Romano, Daniele G, Mascitelli, Justin R , Fragata, Isabel , Osbun, Joshua W , Matouk, Charles , Leacy, Reade De , Grandhi, Ramesh

Mayo Clinic

Interventional Neuroradiology | August 14, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1177/15910199241273839 | PMID 39140967 Get It

Background Whereas mechanical thrombectomy (MT) has become standard-of-care treatment for patients with salvageable brain tissue after acute stroke caused by large-vessel occlusions, the results of MT in patients with medium-vessel occlusions (MEVOs), particularly in the posterior cerebral artery (PCA), are not well known. Methods Using data from the international Stroke Thrombectomy and Aneurysm Registry (STAR), we assessed presenting characteristics and clinical outcomes for patients who underwent MT for primary occlusions in the P2 PCA segment. As a subanalysis, we compared the PCA MeVO outcomes with STAR's anterior circulation MeVO outcomes, namely middle cerebral artery (MCA) M2 and M3 segments. Results Of the 9812 patients in STAR, 43 underwent MT for isolated PCA MeVOs. The patients’ median age was 69 years (interquartile range 61–79), and 48.8% were female. The median NIH Stroke Scale score was 9 (range 6–17). After recanalization, 67.4% of patients achieved successful recanalization (modified treatment in cerebral infarction score [mTICI] ≥ 2b), with a first-pass success rate of 44.2%, and 39.6% achieved a modified Rankin score of 0–2 at 90 days. Nine patients (20.9%) had died by the 90-day follow-up. In comparison with M2 and M3 MeVOs, there were no differences in presenting characteristics among the three groups. Patients with PCA MeVOs were less likely to undergo intra-arterial thrombolysis (4.7% PCA vs. 10.1% M2 vs. 16.2% M3, p = 0.046) or to achieve successful recanalization (mTICI ≥ 2b, 67.4%, 86.7%, 82.3%, respectively, p < 0.001); however, there were no differences in the rates of successful first-pass recanalization (44.2%, 49.8%, 52.3%, respectively, p = 0.65). Conclusions We describe the STAR experience performing MT in patients with PCA MeVOs. Our analysis supports that successful first-pass recanalization can be achieved in PCA MEVOs at a rate similar to that in MCA MeVOs, although further study and possible innovation may be necessary to improve successful PCA MeVO recanalization rates.
Gender Differences in Autonomy Granted to Residents and Fellows During Procedural Training: A Systematic Review and Meta-Analysis
Lund, Sarah , Griffeth, Elaine M. , Williamson, Andrea J.H. , Collings, Amelia T. , Gudmundsdottir, Hallbera , Han, Amy , Kearse, LaDonna , Kratzke, Ian M. , Wilkins, Parvathi , Prokop, Larry J. , Cook, David A. , Williamson, Andrea , Collings, Amelia , Prokop, Larry , Kearse, LaDonna E , Gudmundsdottir, Hallbera

Mayo Clinic

Academic Medicine | August 2, 2024 | Volume: 99 | Issue: 8 | Pages: 922-930

10.1097/acm.0000000000005673 | PMID 38412483 Get It

Abstract Purpose Supervisors may be prone to implicit (unintentional) bias when granting procedural autonomy to trainees due to the subjectivity of autonomy decisions. The authors aimed to conduct a systematic review and meta-analysis to assess the differences in perceptions of procedural autonomy granted to physician trainees based on gender and/or race. Method MEDLINE, Embase, CENTRAL, Scopus, and Web of Science were searched (search date: January 5, 2022) for studies reporting quantitative gender- or race-based differences in perceptions of procedural autonomy of physician trainees. Reviewers worked in duplicate for article selection and data abstraction. Primary measures of interest were self-reported and observer-rated procedural autonomy. Meta-analysis pooled differences in perceptions of procedural autonomy based on trainee gender. Results The search returned 2,714 articles, of which 16 were eligible for inclusion. These reported data for 6,109 trainees (median, 90 per study) and 2,763 supervisors (median, 54 per study). No studies investigated differences in perceptions of autonomy based on race. In meta-analysis of disparities between genders in autonomy ratings (positive number favoring female trainees), pooled standardized mean differences were −0.12 (95% confidence interval [CI], −0.19 to −0.04; P = .003; n = 10 studies) for trainee self-rated autonomy and −0.05 (95% CI, −0.11 to 0.01; P = .07; n = 9 studies) for supervisor ratings of autonomy. Conclusions Limited evidence suggests that female trainees perceived that they received less procedural autonomy than did males. Further research exploring the degree of gender- and race-based differences in procedural autonomy, and factors that influence these differences is warranted.
Endovascular Thrombectomy With and Without Preceding Thrombolysis in Posterior Circulation Stroke—Insights From STAR
Heide, Ev‐Christin , Brinjikji, Waleed , Chowdhry, Shakeel , Dumont, Travis M., Ernst, Marielle , Ezzeldin, Mohamad , Kan, Peter, Kim, Joon‐Tae , Moss, Mark, Polifka, Adam , Psychogios, Marios‐Nikos , Rai, Ansaar , Starke, Robert M. , Tanweer, Omar , Williamson, Richard A., Spiotta, Alejandro M , Maier, Ilko , Investigators, STAR, Kasab, Sami Al , Alawieh, Ali , Arthur, Adam Stephen , Crosa, Roberto , Cuellar, Hugo , Leacy, Reade De , Fragata, Isabel , Howard, Brian M , Jabbour, Pascal , Levitt, Michael R. , Mascitelli, Justin R , Matouk, Charles , Navía, Pedro , Osbun, Joshua W , Park, Min S. , Romano, Daniele G., Shaban, Amir , Williamson, Richard, Wolfe, Stacey Q , Yoshimura, Shinichi , Investigators, STAR

Mayo Clinic

Stroke: Vascular and Interventional Neurology | July 16, 2024 | Volume: 4 | Issue: 5 | Pages: No page available

10.1161/svin.124.001334 | PMID 41586281 Get It

Background Multiple randomized trials could not establish the noninferiority of endovascular thrombectomy (EVT) alone without preceding intravenous thrombolysis (IVT) or superiority of IVT followed by EVT in anterior circulation large‐vessel occlusion stroke. The role of prior IVT in posterior circulation large‐vessel occlusion remains controversial. Methods In this multicenter, retrospective study, patients with stroke with large‐vessel occlusion in the posterior circulation who received EVT alone or with IVT were selected from the stroke thrombectomy and aneurysm registry between 2013 and 2022. Effects of IVT followed by thrombectomy on favorable functional outcome (defined as modified Rankin scale≤3 at 90 days) and safety were investigated using multivariable logistic and linear regression models. Results Of the 588 included patients, 67% (n = 394) were treated with EVT alone and 29% (n = 170) with EVT after IVT, and 4% (n = 24) have missing values on this variable. Controlling for multiple confounding factors, IVT was not associated with a higher likelihood of favorable functional outcome at 90 days (odds ratio, 1.04 [95% CI, 0.52–2.09; P = 0.901). Thrombectomy alone did not show any safety advantages compared with those receiving IVT. Conclusion Similar functional outcomes and complication rates were seen in patients with posterior circulation large‐vessel occlusion treated with EVT alone versus EVT after IVT. Further prospective studies are required to determine the utility of IVT in posterior circulation stroke, especially in patients being directly admitted to thrombectomy centers.
Machine Learning Detects Symptomatic Plaques in Patients With Carotid Atherosclerosis on CT Angiography
Pisu, Francesco , Williamson, Brady J. , Nardi, Valentina , Paraskevas, Kosmas I. , Vagal, Achala , Rubeis, Gianluca De , Porcu, Michele , Cau, Riccardo , Benson, John C. , Balestrieri, Antonella , Suri, Jasjit S. , Saba, Luca , Vagal, Achala , De Rubeis, Gianluca , Porcu, Michele , Cau, Riccardo , Benson, John , Balestrieri, Antonella , Lanzino, Giuseppe , Saba, Luca , Paraskevas, Kosmas I , Nardi, Valentina , Puig, Josep , Lanzino, Giuseppe , Suri, Jasjit S. , Mahammedi, Abdelkader

Mayo Clinic

Circulation: Cardiovascular Imaging | June 18, 2024 | Volume: 17 | Issue: 6 | Pages: No page available

10.1161/circimaging.123.016274 | PMID 38889214 Get It

BACKGROUND: This study aimed to develop and validate a computed tomography angiography based machine learning model that uses plaque composition data and degree of carotid stenosis to detect symptomatic carotid plaques in patients with carotid atherosclerosis. METHODS: The machine learning based model was trained using degree of stenosis and the volumes of 13 computed tomography angiography derived intracarotid plaque subcomponents (eg, lipid, intraplaque hemorrhage, calcium) to identify plaques associated with cerebrovascular events. The model was internally validated through repeated 10-fold cross-validation and tested on a dedicated testing cohort according to discrimination and calibration. RESULTS: This retrospective, single-center study evaluated computed tomography angiography scans of 268 patients with both symptomatic and asymptomatic carotid atherosclerosis (163 for the derivation set and 106 for the testing set) performed between March 2013 and October 2019. The area-under-receiver-operating characteristics curve by machine learning on the testing cohort (0.89) was significantly higher than the areas under the curve of traditional logit analysis based on the degree of stenosis (0.51, P <0.001), presence of intraplaque hemorrhage (0.69, P <0.001), and plaque composition (0.78, P <0.001), respectively. Comparable performance was obtained on internal validation. The identified plaque components and associated cutoff values that were significantly associated with a higher likelihood of symptomatic status after adjustment were the ratio of intraplaque hemorrhage to lipid volume (≥50%, 38.5 [10.1–205.1]; odds ratio, 95% CI) and percentage of intraplaque hemorrhage volume (≥10%, 18.5 [5.7–69.4]; odds ratio, 95% CI). CONCLUSIONS: This study presented an interpretable machine learning model that accurately identifies symptomatic carotid plaques using computed tomography angiography derived plaque composition features, aiding clinical decision-making.
The expanding clinical and genetic spectrum of DYNC1H1 -related disorders
Möller, Birk , Becker, Lena‐Luise , Saffari, Afshin , Afenjar, Alexandra , Coci, Emanuele G. , Williamson, Rachel, Ward‐Melver, Catherine, Gibaud, Marc, Libá, Zuzana , Vlčková, Markéta , William, N , Klee, Eric W. , Gavrilova, Ralitza H. , Capri, Yline, Scavina, Mena , Körner, Robert Walter , Valivullah, Zaheer M. , Weiß, Claudia , Möller, Greta Marit, Frazier, Zoë, Roberts, Amy L. , Gener, Blanca , Scala, Marcello , Striano, Pasquale, Thiel, Moritz , Sinnema, Margje, Kamsteeg, Erik‐Jan , Donkervoort, Sandra, Duboc, Véronique , Zaafrane‐Khachnaoui, Khaoula , Elkhateeb, Nour , Margot, Henri , Isidor, Bertrand, Keren, Boris, Küsters, Benno , Sveden, Abigail , Nicolai, Joost , Dötsch, Jörg , Koy, Anne , Bönnemann, C. , Hagen, Maja von der , Kleist-Retzow, Jürgen‐Christoph von , Voermans, Nicol C, Jungbluth, Heinz , Donkervoort, Sandra , William, Nancy, Klee, Eric W , Thiel, Moritz , Kamsteeg, Erik-Jan , Beggs, Alan H , Koy, Anne , Dafsari, Hormos Salimi , Donkervoort, Sandra , Scala, Marcello , Gibaud, Marc , Sedláčková, Lucie , Laššuthová, Petra , Lévy, Jonathan , Capri, Yline , Roberts, Amy, Zara, Federico , Duboc, Veronique, Selim, Laila , Marin, Victor, Bénéteau, Claire , Isidor, Bertrand , Cogné, Benjamin , Keren, Boris , Beggs, Alan H. , Chopra, Maya , Genetti, Casie A. , Dafsari, Hormos Salimi

Mayo Clinic

Brain | June 6, 2024 | Volume: 148 | Issue: 2 | Pages: 597-612

10.1093/brain/awae183 | PMID 38848546 Get It

Abstract Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD). As heavy-chain dynein is ubiquitously expressed, the apparent selectivity of heavy chain dyneinopathy for motor neuronal phenotypes remains currently unaccounted for. Here, we aimed to evaluate the full DYNC1H1-related clinical, molecular and imaging spectrum, including multisystem features and novel phenotypes presenting throughout life. We identified 47 cases from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0–59 years) and collected phenotypic data via a comprehensive standardized survey and clinical follow-up appointments. Most patients presented with divergent and previously unrecognized neurological and multisystem features, leading to significant delays in genetic testing and establishing the correct diagnosis. Neurological phenotypes include novel autonomic features, previously rarely described behavioral disorders, movement disorders and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. We also identified an age-dependent biphasic disease course with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, we observed several cases in whom neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of neurodevelopmental disorder manifestations, indicating a role of dynein in anti-viral immunity and neuronal health. In summary, our findings expand the clinical, imaging and molecular spectrum of pathogenic DYNC1H1 variants beyond motor neuropathy disorders and suggest a life-long continuum and age-related progression due to deficient intracellular trafficking. This study will facilitate early diagnosis and improve counselling and health surveillance of affected patients.