Huntington’s disease (HD) is the most common autosomal dominant neurodegenerative disorder, characterized by a triad of motor dysfunction, cognitive decline, and psychiatric disturbances. While recent efforts have focused on developing disease-modifying therapies, no treatment has yet demonstrated clinical efficacy. As a result, symptomatic treatment remains the cornerstone of care. However, high-quality evidence from large randomized trials is limited, and therapeutic decisions must rely on clinical expertise and extrapolation from other neurological or psychiatric conditions. This narrative review provides a comprehensive and practical overview of symptomatic treatment strategies for HD with emphasis on the pathophysiological underpinnings of each symptom and the molecular mechanisms of available and emerging therapies, aiming to support rational, individualized management. Finally, we highlight the critical role of non-pharmacological interventions and the need for multidisciplinary approaches to optimize patient outcomes and quality of life.

Hereditary ataxias are a heterogeneous group of disorders with overlapping clinical presentations but diverse genetic and molecular etiologies. Biomarkers are increasingly essential to improve diagnosis, refine prognosis, and accelerate the development of targeted therapies. Following PRISMA-ScR guidelines, we conducted a scoping review of PubMed and complementary sources (2010–2025) to map and describe the current landscape of genetic, imaging, fluid, electrophysiological, and digital biomarkers across the most prevalent hereditary ataxias, including SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, SCA27B, dentatorubral–pallidoluysian atrophy (DRPLA), Friedreich’s ataxia (FRDA), RFC1-related ataxia (CANVAS), SPG7, and fragile X-associated tremor/ataxia syndrome (FXTAS). Eligible evidence encompassed observational cohorts, clinical trials, case series, and case reports providing primary biomarker data, with the objective of characterizing evidence breadth and identifying knowledge gaps rather than assessing comparative effectiveness. Across modalities, converging evidence highlights subtype-specific biomarker signatures. MRI volumetry, DTI, and FDG-PET map characteristic neurodegeneration patterns. Fluid biomarkers such as neurofilament light chain are informative across several SCAs and FRDA, while frataxin levels constitute robust endpoints in FRDA trials. Pathology-specific biomarkers such as ataxin-3 are advancing as tools for target engagement and may generalize to future gene-lowering strategies. Electrophysiological and oculographic measures show sensitivity for early disease detection, and wearable technologies are emerging as scalable tools for longitudinal monitoring. This scoping review synthesizes the heterogeneous evidence on hereditary ataxia biomarkers, highlighting multimodal frameworks that link molecular mechanisms with clinical endpoints. Mapping current approaches also reveals substantial variability and gaps across diseases and modalities, underscoring the need for harmonized validation in international multicenter cohorts and systematic integration into future clinical trials to advance precision medicine in hereditary ataxias.

Differentiating epileptic seizures from manifestations of intracranial pressure (ICP) fluctuations can be challenging in patients with a ventriculoperitoneal shunt (VPS). We report a case of intermittent VPS malfunction presenting with focal motor events initially misdiagnosed as refractory status epilepticus. A 27-year-old man with childhood-onset hydrocephalus treated with a right VPS and a previous history of focal epilepsy-managed with levetiracetam, perampanel, and lacosamide-presented with increased seizure frequency and intermittent headaches. Initial treatment included continuous infusions of valproate, lacosamide, and levetiracetam under the presumption of status epilepticus. However, prolonged (15-hour) video-EEG monitoring during the clinical events showed diffuse delta activity with suppression of the background rhythm rather than ictal discharges. These EEG changes coincided with episodes of arterial hypertension, profound bradycardia (as low as 20 bpm), and papilledema on funduscopic examination. Revision of the shunt system resulted in complete resolution of symptoms and withdrawal of antiseizure medications. Extended video-EEG monitoring can be a useful tool to distinguish epileptic seizures from paroxysmal manifestations of paroxysmal intracranial hypertension due to VPS malfunction.