Annals of Clinical and Translational Neurology最新文献

{"title":"Correction to α-synuclein conformational antibodies fused to penetratin are effective in models of Lewy body disease","authors":"","doi":"10.1002/acn3.52266","DOIUrl":"10.1002/acn3.52266","url":null,"abstract":"<p>Annals of Clinical and Translational Neurology 2016; 3(8): 588–606. doi: 10.1002/acn3.321</p><p>The authors regret that an error occurred during the assembly of Fig. 1A and C where the incorrect panel was used to represent the non-tg Pen-D5 and the α-syn tg control condition. The corrected figure is provided in the attachment. We apologize for this error.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"454"},"PeriodicalIF":4.4,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52266","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remote neurodegeneration in the lumbosacral cord one month after spinal cord injury: a cross-sectional MRI study.","authors":"Silvan Büeler, Collene E Anderson, Veronika Birkhäuser, Patrick Freund, Oliver Gross, Thomas M Kessler, Christian W Kündig, Lorenz Leitner, Nomah Mahnoor, Ulrich Mehnert, Raphael Röthlisberger, Stephanie A Stalder, Stéphanie van der Lely, Carl M Zipser, Gergely David, Martina D Liechti","doi":"10.1002/acn3.52298","DOIUrl":"https://doi.org/10.1002/acn3.52298","url":null,"abstract":"<p><strong>Objective: </strong>To characterize structural integrity of the lumbosacral enlargement and conus medullaris within one month after spinal cord injury (SCI).</p><p><strong>Methods: </strong>Lumbosacral cord MRI data were acquired in patients with sudden onset (<7 days) SCI at the cervical or thoracic level approximately one month after injury and in healthy controls. Tissue integrity and loss were evaluated through diffusion tensor (DTI) and T2*-weighted imaging (cross-sectional area [CSA] measurements). Associations with the degree of neurological impairment were assessed using linear mixed-effects models.</p><p><strong>Results: </strong>Twenty-one patients with SCI showed lower white matter (WM) fractional anisotropy (FA) (≤-13.3%) and higher WM radial diffusivity (≤14.6%) compared to 27 healthy controls. Differences were most pronounced in the lateral columns of WM. CSA measurements revealed no group differences. For the lateral columns, lower FA values were associated with lower motor scores and lower amplitudes of motor evoked potentials. For the dorsal columns, lower FA values were associated with lower amplitudes of somatosensory evoked potentials from the lower extremities.</p><p><strong>Interpretation: </strong>One month after SCI, first signs of WM degeneration were apparent, without indication of tissue loss. The more pronounced differences observed in the lateral column could be attributed to anterograde degeneration of the motor tracts. The variability among DTI measurements remote from the lesion site can be partially explained by the degree of the SCI-induced neurological impairment. Together with previous studies, our findings indicate that impaired tissue integrity precedes tissue loss. The presented techniques have potential applications in monitoring the progression of various neurological diseases.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric, adult, and late onset multiple sclerosis: Cognitive phenotypes and gray matter atrophy.","authors":"Ermelinda De Meo, Emilio Portaccio, Rosa Cortese, Luis Ruano, Benedetta Goretti, Claudia Niccolai, Francesco Patti, Clara Chisari, Paolo Gallo, Paola Grossi, Angelo Ghezzi, Marco Roscio, Flavia Mattioli, Chiara Stampatori, Marta Simone, Rosa Gemma Viterbo, Raffaello Bonacchi, Assunta Maria Rocca, Elisa Leveraro, Antonio Giorgio, Nicola De Stefano, Massimo Filippi, Matilde Inglese, Maria Pia Amato","doi":"10.1002/acn3.52291","DOIUrl":"https://doi.org/10.1002/acn3.52291","url":null,"abstract":"<p><strong>Objectives: </strong>We aim to investigate cognitive phenotype distribution and MRI correlates across pediatric-, elderly-, and adult-onset MS patients as a function of disease duration.</p><p><strong>Methods: </strong>In this cross-sectional study, we enrolled 1262 MS patients and 238 healthy controls, with neurological and cognitive assessments. A subset of 222 MS patients and 92 controls underwent 3T-MRI scan for brain atrophy and lesion analysis. Multinomial probabilistic models identified likelihood of belonging to cognitive phenotypes (\"preserved-cognition,\" \"mild verbal memory/semantic fluency,\" \"mild multi-domain,\" \"severe attention/executive,\" and \"severe multi-domain\") and experiencing MRI abnormalities based on disease duration and age at onset.</p><p><strong>Results: </strong>In all groups, the likelihood of \"preserved-cognition\" phenotype decreased, whereas \"mild multi-domain\" increased with longer disease duration. In pediatric- and adult-onset patients, the likelihood of \"mild verbal memory/semantic fluency\" phenotypes decreased with longer disease duration, and that of \"severe multi-domain\" increased with longer disease duration. Only in adult-onset patients, the likelihood of \"severe executive/attention\" phenotype increased with longer disease duration. All groups displayed escalating probabilities of cortical, thalamic, hippocampal, and deep gray matter atrophy over disease course. Compared to adult, pediatric-onset patients showed lower probability of experiencing thalamic atrophy with longer disease duration, while elderly-onset showed higher probability of experiencing cortical and hippocampal atrophy.</p><p><strong>Interpretation: </strong>Age at MS onset significantly influences the distribution of cognitive phenotypes and the patterns of regional gray matter atrophy throughout the disease course.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143035409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders","authors":"Davut Pehlivan,&nbsp;Chengjun Huang,&nbsp;Holly K. Harris,&nbsp;Christine Coquery,&nbsp;Aditya Mahat,&nbsp;Mirjana Maletic-Savatic,&nbsp;Laurence Mignon,&nbsp;Sukru Aras,&nbsp;Daniel G. Glaze,&nbsp;Charles S. Layne,&nbsp;Leonardo Sahelijo,&nbsp;Huda Y. Zoghbi,&nbsp;Matthew J. McGinley,&nbsp;Bernhard Suter","doi":"10.1002/acn3.52269","DOIUrl":"10.1002/acn3.52269","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Rett syndrome (RTT) and <i>MECP2</i> duplication syndrome (MDS) result from under- and overexpression of <i>MECP2</i>, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved. The aim of this study was to identify biomarkers distinguishing RTT from MDS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>We prospectively enrolled 11 MDS and 6 male RTT like (MRL) individuals for a panel of clinical and neurophysiological assessments over two visits, 8–10 months apart.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified numerous clinical and physiological features as promising biomarkers. MRL individuals exhibited large amplitude whole body tremor, midline stereotypies (vs. hand flapping at sides in MDS), earlier neuromotor regression, and earlier onset but less commonly refractory epilepsy. In the neurophysiological domain, we observed several marked differences in sleep physiology between MDS/MRL and typically developing (TD) individuals including reduced sleeping time, increased delta power during rapid eye movement (REM) sleep, decreased occipital alpha and increased brain-wide delta power during wakefulness, and reduced spindle density and duration. MRL individuals also had much lower delta power during NREM 2 and 3 stages than the TD group. We found differences in spindle duration in the temporal lobes and spindle amplitude in the frontal lobes between MDS and MRL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Our study revealed distinct clinical features of MDS and MRL that can be monitored during a clinical trial and may serve as target engagement, disease progression, or safety biomarkers for interventional studies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"433-447"},"PeriodicalIF":4.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52269","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142996750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.","authors":"Andrew T Knox, Christopher H Thompson, Dillon Scott, Tatiana V Abramova, Bethany Stieve, Abigail Freeman, Alfred L George","doi":"10.1002/acn3.52297","DOIUrl":"10.1002/acn3.52297","url":null,"abstract":"<p><strong>Objective: </strong>Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.</p><p><strong>Methods: </strong>Clinical data were extracted for children with SCN1A variants identified by clinical genetic testing. Functional properties of non-truncating Na_V1.1 variant channels were determined using automated patch clamp recording. Functional data were incorporated into a parvalbumin-positive (PV+) interneuron computer model to predict variant effects on neuron firing and were compared with longitudinal clinical data describing epilepsy types, neurocognitive outcomes, and medication response.</p><p><strong>Results: </strong>Twelve SCN1A variants were identified (nine non-truncating). Six non-truncating variants exhibited no measurable sodium current in heterologous cells consistent with complete loss of function (LoF). Two variants caused either partial LoF (L479P) or a mixture of gain and loss of function (I1356M). The remaining non-truncating variant (T1250M) exhibited normal function. Functional data changed classification of pathogenicity for six variants. Complete LoF variants were universally associated with seizure onset before one year of age and febrile seizures, and were often associated with drug resistant epilepsy and below average cognitive outcomes. Simulations demonstrated abnormal firing in heterozygous model neurons containing dysfunctional variants.</p><p><strong>Interpretation: </strong>In SCN1A-associated epilepsy, functional analysis and neuron simulation studies resolved variants of uncertain significance and correlated with aspects of phenotype and medication response.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142996752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome","authors":"Umar Zubair,&nbsp;Kathryn Yang,&nbsp;Luca Schierbaum,&nbsp;Amy Tam,&nbsp;Nicole Battaglia,&nbsp;Joshua Rong,&nbsp;Vicente Quiroz,&nbsp;Darius Ebrahimi-Fakhari","doi":"10.1002/acn3.52293","DOIUrl":"10.1002/acn3.52293","url":null,"abstract":"<p>Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of <i>TECPR2</i>-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the <i>TECPR2</i> gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This case illustrates challenges associated with a mixed phenotype of ultra-rare disorders and underscores the importance of investigating recessive conditions in homozygosity regions when atypical clinical features occur in patients with well-characterized imprinting disorders.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"448-451"},"PeriodicalIF":4.4,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52293","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142976838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.","authors":"Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean-Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean","doi":"10.1002/acn3.52296","DOIUrl":"https://doi.org/10.1002/acn3.52296","url":null,"abstract":"<p><strong>Objective: </strong>To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.</p><p><strong>Methods: </strong>We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.</p><p><strong>Results: </strong>Both patients exhibited gait disturbance and paresthesia. Electrodiagnostic studies revealed demyelinating abnormalities with motor conduction blocks suggestive of chronic inflammatory demyelinating polyradiculoneuropathy, with abnormal plexus MRI and elevated CSF protein levels. One of them had pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrP^Sc deposits in the peripheral nervous system, particularly in Schwann cells.</p><p><strong>Interpretation: </strong>Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142968786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interaction between riluzole treatment and dietary glycemic index in the disease progression of amyotrophic lateral sclerosis.","authors":"Ikjae Lee, Hiroshi Mitsumoto, Seonjoo Lee, Edward Kasarskis, Michael Rosenbaum, Pam Factor-Litvak, Jeri W Nieves","doi":"10.1002/acn3.52294","DOIUrl":"https://doi.org/10.1002/acn3.52294","url":null,"abstract":"<p><strong>Objective: </strong>We examined whether riluzole treatment modifies the associations between the dietary glycemic index (GI) and load (GL) and disease progression in amyotrophic lateral sclerosis (ALS).</p><p><strong>Methods: </strong>Sporadic ALS patients in the Multicenter Cohort Study of Oxidative Stress who completed a baseline food frequency questionnaire were included (n = 304). Interactions between baseline riluzole treatment and GI/GL on functional decline and tracheostomy-free survival were examined using linear regression and Cox proportional hazard models adjusted for covariates. Age, sex, disease duration, diagnostic certainty, body mass index, bulbar onset, revised ALS functional rating scale (ALSFRS-r) total score, and forced vital capacity, from baseline were included as covariates.</p><p><strong>Results: </strong>Baseline higher GI and GL were associated with less decline of ALSFRS-r total score at 3-month follow-up in the riluzole treatment group (RTG) but not in the no-riluzole group (NRG). When quartile groups were used, GI second [β = -1.9, 95% CI (-4.1, -0.2), p = 0.07], third [β = -3.0, 95% CI (-5.1, -0.8), p < 0.01] and fourth [β = -2.2, 95% CI (-4.3, -0.01), p < 0.05] quartile groups were associated with less ALSFRS-r decline at 3-months compared to the first quartile group (GI < 47.2) among the RTG. Similarly, GL fourth quartile group (GL > 109.5) was associated with less ALSFRS-r decline at 3 months compared to the first quartile group [β = -2.6, 95% CI (-4.7, -0.5), p < 0.05] among the RTG. In NRG, no statistically significant differences in ALSFRS-r decline were found among GI/GL quartile groups.</p><p><strong>Interpretation: </strong>High dietary GI and GL are associated with a slower functional decline only among ALS patients taking riluzole.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real-world” setting","authors":"Sean E. Smith,&nbsp;Kelly McCoy-Gross,&nbsp;Amber Malcolm,&nbsp;Jeri Oranski,&nbsp;Jesse W. Markway,&nbsp;Timothy M. Miller,&nbsp;Robert C. Bucelli","doi":"10.1002/acn3.52264","DOIUrl":"10.1002/acn3.52264","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Patients with amyotrophic lateral sclerosis (ALS) caused by superoxide dismutase 1 (SOD1) gene mutations (SOD1 ALS) treated with tofersen have shown slowing of disease progression, and disease stabilization with recovery of function in some patients. We report our clinical experience with treating patients with SOD1 ALS and the effects of tofersen on outcome measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a single-center observational study of patients with SOD1 ALS receiving treatment with tofersen. The effects of tofersen treatment on neurofilament levels, muscle strength, and clinical outcome measures were assessed. Several patients had outpatient neuromuscular rehabilitation in addition to tofersen treatment and we report changes in functional outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seven SOD1 ALS patients received treatment at our institution. All patients showed robust and sustained declines in serum NfL and CSF pNFH (mean change serum NfL: −57.9%; mean change CSF pNFH: −67.6%). There was apparent disease stabilization as assessed by the ALSFRS-R total score, mean change 1.1 (SD = 0.7). There was notable improvement in functional independence measured by the FIM motor score, mean change 5.13 points (SD = 3.85).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study provides evidence that tofersen treatment in SOD1 ALS can lead to meaningful preservation of function and suggestions of sustained improvement in neurologic function in some patients, and strongly supports the role of neurofilaments as therapeutic biomarkers.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"311-319"},"PeriodicalIF":4.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52264","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Infantile Krabbe disease (0–12 months), progression, and recommended endpoints for clinical trials”","authors":"","doi":"10.1002/acn3.52275","DOIUrl":"10.1002/acn3.52275","url":null,"abstract":"<p>Article AID: ACN352114</p><p>\u0000 <b>Table 1</b>\u0000 </p><p>On Page 4, age at first evaluation for HSCT asymptomatic group should have a maximum of 40.7 not 40.1.</p><p>For initial psychosine levels, please update natural history median to 22.3 and range to 0.99–82.3, symptomatic HSCT median to 28.1 and range to 4.09–54.0, and asymptomatic HSCT range to 1.03–29.1.</p><p>For initial GALC levels, please update symptomatic HSCT median to 0.01 and asymptomatic HSCT range to 0.02–0.23.</p><p>\u0000 <b>Table 2</b>\u0000 </p><p>On Page 5, please update heading to say, “Summary of the growth percentiles in Natural History, Symptomatic HSCT, and Asymptomatic HSCT patients, indicating percentages below the third percentile for head circumference and below the fifth percentile for height, weight, and body mass index.”</p><p>\u0000 <b>Sitting</b>\u0000 </p><p>On Page 8, please update the last sentence from “52%” to “53%,” and replace “Table S6” with “Table S7” in the last sentence.</p><p>\u0000 <b>Neurodevelopmental Function</b>\u0000 </p><p>On Pages 10–11, the last sentence in the first paragraph of Page 11 (“<i>The Asympt HSCT group showed higher scores and greater gains over time than both the NH and Sympt HSCT groups for all domains (all p &lt; 0.001) (Table</i> <i>S9</i><i>)</i>.”) needs to be moved to Page 10 just after “<i>(Figs</i>. <i>S2</i> <i>and</i> <i>S3</i>, <i>Table</i> <i>S8</i><i>)</i>.” and before “<i>The group performed slightly better…</i>.”</p><p>\u0000 <b>Supporting Information</b>\u0000 </p><p><span>Table</span> <span>S4</span></p><p>Table S4 is incorrectly listed as Table S5.</p><p><span>Tables</span> <span>S7</span>, <span>S8</span>, <span>and</span> <span>S9</span></p><p>Table S7 is incorrectly listed as Table S9. Table S8 is incorrectly listed as Table S7. Table S9 is incorrectly listed as Table S8.</p><p>Additionally, the tables and figures under Supporting Information do not have numbers or legends when downloaded. To address all issues, we have prepared new, reformatted PDFs with correct figure numbers and legends to be included in Supporting Information. Please just replace those files with the new ones provided. Thank you!</p><p>We apologize for these errors.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"455"},"PeriodicalIF":4.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52275","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}