Citations 16

Longitudinal Dynamics of Polyglutamine‐Expanded ATXN3 in Biofluids of Spinocerebellar Ataxia Type 3

Movement Disorders | July 1, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1002/mds.70411 | PMID 42381263

Abstract Background Spinocerebellar ataxia type 3 (SCA3), the most common autosomal dominant ataxia, is driven by the accumulation of polyglutamine‐expanded (polyQ) ATXN3 proteins. While promising as biomarkers, their longitudinal trajectories across multiple biofluids remain poorly defined. Objectives To quantify polyQ ATXN3 levels in cerebrospinal fluid (CSF), plasma, and urine within a comprehensive cohort, utilizing serial measurements to map protein dynamics. Methods We employed a validated immunoassay to quantify polyQ ATXN3 in 97 symptomatic and 13 presymptomatic SCA3 patients, correlating levels with clinical features, ancestry, disease status, and longitudinal progression. Results Asian participants exhibited lower plasma but elevated urinary polyQ ATXN3 levels relative to other ancestries. While CSF levels were higher in symptomatic patients at baseline, they showed a significant longitudinal decline. Conclusions PolyQ ATXN3 is a viable multi‐biofluid biomarker. Declining CSF levels likely reflect neurodegeneration, supporting its role in tracking progression and emphasizing the need for ancestry‐based adjustment in trials. © 2026 International Parkinson and Movement Disorder Society.
Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7

International Journal of Molecular Sciences | May 25, 2025 | Volume: 26 | Issue: 11 | Pages: 5070

10.3390/ijms26115070 | PMID 40507882

Spinocerebellar ataxia type 7 (SCA7), a rare form of ataxia, possesses a wide phenotypic spectrum ranging from classic ataxic symptoms to blindness, multiorgan failure, cardiomyopathy, and early death among younger age groups. Biomarkers associated with disease progression and severity could aid in disease prognostication. We evaluated the utility of glial fibrillary acidic protein (GFAP) and neurofilament light (NfL) in distinguishing patients with SCA7 from healthy controls and estimating patient prognosis. GFAP and NfL levels were measured in 23 plasma and 20 cerebrospinal fluid (CSF) samples from asymptomatic (N = 3) and symptomatic SCA7 participants (N = 10) and from healthy controls (N = 8). GFAP concentrations were elevated in the plasma (82.7 pg/mL) and CSF (9318 pg/mL) of patients with SCA7 compared to controls (plasma: 48.0 pg/mL; CSF: 89,056 pg/mL). Similarly, NfL plasma (21.6 pg/mL) and CSF (2615.0 pg/mL) levels were also significantly upregulated in SCA7 compared to controls (plasma: 8.2 pg/mL; CSF: 414.6 pg/mL). Higher levels of NfL, but not of GFAP, significantly discriminated symptomatic SCA7 patients from controls (area under de curve, AUC: 0.898, p = 0.0059, in plasma, and AUC: 1.0, p = 0.0012, in CSF). The levels of both biomarkers increased overtime, with plasma NfL levels strongly associated with a worse score in the scale for the assessment and rating of ataxia (SARA) (Spearman r: 0.8354, p = 0.0007; regression analysis: β: 0.021, 95% CI: 0.008–0.035, p = 0.0048). These findings suggest that NfL could serve as a valuable biomarker for monitoring disease progression and prognosis in SCA7 patients.
Deeply Phenotyped Control Cohort for Studies of Parkinson’s Disease (P2.074)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.p2.074

TRIO Gene Segregation in a Family with Cerebellar Ataxia (P1.063)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.p1.063

High-density 360-degree Circle Grid for Detection of After Discharges During Functional Brain Mapping in Patients with Glioma (S3.006)

Neurology | December 7, 2023 | Volume: 92 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.92.15_supplement.s3.006

Analysis of a Large Progressive Supranuclear Palsy Cohort Reporting to a Single Clinical Center (P3.8-024)

Neurology | December 7, 2023 | Volume: 92 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.92.15_supplement.p3.8-024

Glioblastoma and Disseminated Intravascular Coagulation: Literature Review and Illustrative Case (P2.6-017)

Neurology | December 7, 2023 | Volume: 92 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.92.15_supplement.p2.6-017

A large kindred with familial ALS due to the KIF5A p.Arg1007Lys mutation (P10-8.004)

Neurology | April 28, 2023 | Volume: 100 | Issue: 17_supplement_2 | Pages: No page available

10.1212/wnl.0000000000203881

Abstract Number ‐ 198: Management of poor grade aneurysmal subarachnoid hemorrhage: illustrative case and literature review

Stroke: Vascular and Interventional Neurology | April 25, 2023 | Volume: 3 | Issue: S1 | Pages: No page available

10.1161/svin.03.suppl_1.198

Introduction Poor‐grade aneurysmal subarachnoid hemorrhage (aSAH) is associated with high mortality. Overall, 20–30% of aSAH are described as poor grade. Despite recent advances in management strategies, prognosis of poor‐grade aSAH remains dismal. As such, we review the most current literature regarding management strategies that can be used to decrease the risk of the four most common causes of secondary brain injury: 1) aneurysm re‐rupture, 2) hydrocephalus, 3) cerebral salt wasting, and 4) delayed cerebral ischemia/vasospasm. Methods We present a 46‐year‐old female patient with poor‐grade aSAH after a loss of consciousness following thunderclap headache. Examination showed a dilated left pupil and Glasgow Coma Scale (GCS) of 4. Imaging revealed a ruptured anterior communicating artery aneurysm, and she was subsequently taken to the neuro‐interventional radiology suite for EVD placement. On POD 7 Transcranial Doppler (TCD) suggested moderate vasospam of left MCA. Two successful balloon angioplasties of the basilar, ACA‐A1, and MCA‐M1 were successfully performed on separate consecutive days. By POD 10, intermittent severe ICP spikes required targeted temperature management (TTM) with hypothermia. On POD 24, her ICP normalized, she was no longer comatose, and her EVD was clamped and removed. She was rapidly weaned off ventilator and transitioned to rehabilitation. 3‐months postoperatively, Modified Rankin Scale score was 0. Results Based upon the result of our literature review, we propose maintaining blood pressure below 160 mmHg prior to intervention, after which it can be increased to 160–240 mmHg to prevent vasospasm. Transcranial Doppler is essential to detect vasospasm as the aSAH symptoms subtle; once identified, vasospasm can be successfully treated with balloon angioplasty. Finally, targeted temperature management, mannitol, hypertonic saline, and neuromuscular paralysis are essential for postoperative management of ICP levels. Conclusions The multimodal approach should be considered when managing poor grade aSAH. Further research in aSAH management would benefit the patients who present with poor prognosis, thereby improving patient care and leading to a standard, effective approach for aSAH management.
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | January 6, 2023 | Volume: 24 | Issue: 3-4 | Pages: 347-350

10.1080/21678421.2022.2164204 | PMID 36604770