Tourette syndrome presents with diverse motor and vocal tics, yet involvement of Eustachian tube dynamics has not been previously described. We report the case of a 31-year-old woman who developed an unusual symptom she described as an "ear-popping tic," characterized by a strong premonitory urge to release air from the ears and clicking sounds. Her long clinical history included childhood-onset tics, emotional instability, psychiatric hospitalizations, and fluctuating tic severity. At age 31, she reported repetitive ear-popping sensations accompanied by voluntary suppression to some extent. Ear, nose, and throat examination revealed normal tympanic membranes and hearing thresholds. Acoustic Eustachian tube function testing objectively demonstrated repetitive Eustachian tube opening independent of swallowing, a finding not previously documented in tic disorders. The patient described a strong urge to engage in ear-popping and partial suppressibility, although the temporal relationship between the auditory sensation and the urge was unclear. Differential diagnoses included voluntary ear-popping behavior, palatal myoclonus, middle ear myoclonus, and tensor tympani syndrome. The repetitive non-swallow-related tube opening was considered most consistent with tic-like contractions of the tensor veli palatini and levator veli palatini muscles, although voluntary components could not be fully excluded. One month later, she adopted lifestyle practices inspired by traditional East Asian medicine, leading to gradual psychological stabilization. The ear-popping tic became less intrusive, and all medications were eventually discontinued. This case highlights the importance of objective assessment in distinguishing tic-like phenomena from other causes of Eustachian tube opening.

A 56-year-old man developed frequent falls after starting clozapine for treatment-resistant bipolar disorder. His falls were caused by negative myoclonus (see videos)-a rare adverse effect of clozapine. His movement disorder persisted despite adding antiseizure medication (valproate), and the clozapine had to be reduced rapidly to reduce risk of falls and functional impairment. This case emphasises the importance of a thorough medication review and detailed physical examination in patients with psychiatric disorders who develop falls when taking multiple and complex medications.

Mark Hallett, MD (1943-2025) was a highly influential neurologist in the modern history of movement disorders. Over several decades, his work transformed the field from a predominantly descriptive clinical specialty into a neuroscientific discipline. Through pioneering investigations in neurophysiology, cortical excitability, dystonia, tremors, myoclonus, functional movement disorders, and transcranial magnetic stimulation, Hallett helped establish conceptual frameworks that continue to shape contemporary research and clinical practice. Beyond his scientific contributions, he is recognized as a global mentor and educational ambassador whose influence extended across generations of neurologists and neuroscientists worldwide. This article examines Hallett's dual legacy as both a transformative scientist and an academic humanitarian whose career exemplifies the integration of scientific rigor, international collaboration, and humanistic mentorship.

True brachial artery aneurysms are uncommon and most commonly associated with trauma or connective tissue disorders, with thromboembolism. We report a 41-year-old male with myoclonus dystonia presenting with a 4-week history of an enlarging left arm mass. Imaging revealed a 1.3 cm saccular brachial artery aneurysm, likely due to repetitive blunt trauma. The patient underwent successful excision with reversed basilic vein interposition grafting and was discharged without complications. This case highlights the role of repetitive minor trauma in aneurysm formation and the importance of early surgical management to prevent ischemic complications.

Pregabalin is FDA-approved for the treatment of neuropathic pain associated with diabetes, postherpetic neuralgia, spinal cord injury, and as an adjunctive treatment for partial seizures and thus is a commonly prescribed agent in the primary care, neurological, and pain management settings. Adverse effects of pregabalin include dizziness, somnolence, diplopia, blurry vision, and respiratory depression, as well as delayed dermatological hypersensitivity reactions and weight gain. Pregabalin dosing is influenced by renal function, and dose adjustment should be considered in all patients. A much rarer but serious adverse effect of pregabalin is myoclonus. There have been a few case reports of negative myoclonus in patients treated with both pregabalin and gabapentin; however, these patients tend to have renal dysfunction and typically present with altered mentation. Furthermore, these patients are often treated in the context of refractory epilepsy and are treated with other antiepileptic drugs, some of which can also result in myoclonus. Brief episodes of confusion, diplopia, word-finding difficulty, or other transient neurological deficits, which could be concerning for acute ischemic events in the setting of pregabalin use, have never been described. Here, we present a case report of a patient on long-term pregabalin without renal dysfunction who initially presented as a stroke alert for transient neurological deficits followed by jerking movements consistent with positive myoclonus, which is much less commonly reported than negative myoclonus in the setting of pregabalin usage.

Spinocerebellar ataxia type 27B is a recently described autosomal dominant, late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent adult-onset ataxia, its full clinical spectrum remains incompletely understood. To characterize the neurological, cognitive, and paraclinical phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand the currently known motor and non-motor features, as well as to assess the co-occurrence of other repeat expansions. In this cross-sectional single-center study, patients with heterozygous FGF14 repeat expansions underwent standardized neurological examination and cognitive screening. Paraclinical data were reviewed when available. 18 patients were included in the study (mean age at onset: 64 [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most commonly a lateral veering gait with corrective sidesteps. In addition to the core known cerebellar phenotype, we identified other movement-disorder manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with nigrostriatal degeneration confirmed in one patient. Cognitive impairment was common, with two-thirds of patients fulfilling criteria for cerebellar cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]). Worse CCAS and MoCA performance was associated with increasing ataxia severity. FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three patients. Earlier diagnostic misclassification as transient ischemic attack was reported in 33%. These findings expand the known phenotype of spinocerebellar ataxia type 27B, emphasizing it as a multisystem movement disorder.

Variants in KCNC1 encoding the voltage-gated potassium (K+) channel subunit KV3.1 are an emerging cause of a spectrum of neurological disease including developmental delay/intellectual disability, ataxia, myoclonus, and epilepsy, including progressive myoclonus epilepsy and developmental and epileptic encephalopathy. Here, we report novel biophysical properties of a recurrent de novo missense variant in KCNC1 c.1196C>T (p.Thr399Met) associated with epilepsy, mild developmental delay, and nonprogressive ataxia. The variant is localized to the highly conserved pore region of the channel, and voltage-clamp electrophysiological recording demonstrated a complete loss of function, as seen in more severe forms of KCNC1-related disorders. When expressed with wild-type (WT) to mimic the heterozygous state of the variant as would occur in a disease context, current density was not markedly reduced; however, resulting currents displayed a ∼20 mV hyperpolarizing shift of the voltage dependence of activation along with slowed deactivation kinetics, consistent with gain of function. In order to better understand this "dominant-positive effect" exerted on the WT channel, we co-expressed the KV3.1 p.Thr399Met variant with the recurrent p.Ala421Val variant known to act via loss of function with near-complete absence of current and associated with severe KCNC1-related disease. Co-expression of the two nonfunctioning variants led to a mild rescue of K+ current compared with the KCNC1-p.Ala421Val variant alone, further supporting a dominant-positive effect. Both KCNC1-p.Thr399Met and p.Ala421Val displayed trafficking deficiency. These results suggest that inclusion of the p.Thr399Met variant in heterotetrameric KV3 channels alters the gating kinetics of WT channel subunits, and highlight the unique features of this variant. The apparent complete loss of function of the p.Thr399Met variant when expressed alone is inconsistent with the relatively mild clinical presentation of the patient, subsequently explained via the "dominant-positive" action when combined with WT subunits.

Adenylosuccinate lyase deficiency (ADSLD) is an ultra-rare autosomal recessive disorder of purine metabolism. The most severe neonatal phenotype presents with profound encephalopathy from birth, hypotonia, respiratory insufficiency, and early seizures. A preterm infant was delivered at 34+0 weeks with antenatal progressive microcephaly and mild polyhydramnios. At birth, the neonate exhibited absent spontaneous respiration and marked hypotonia, necessitating ventilation and intubation. Respiratory distress syndrome (RDS) was managed with surfactant, but two extubation attempts with non-invasive continuous positive airway pressure/biphasic positive airway pressure (nCPAP/DuoPAP) were unsuccessful. Neurologically, the infant demonstrated profound central hypotonia, stimulus-induced myoclonus, and a burst-suppression pattern on amplitude-integrated electroencephalography (aEEG). Antiseizure therapy with phenobarbital and levetiracetam was initiated. Brain magnetic resonance imaging (MRI) revealed microcephaly with simplified gyrification, bilateral intraventricular hemorrhage (IVH) with additional posterior fossa hemorrhage, delayed myelination, and evolving post-hemorrhagic hydrocephalus. Targeted biochemical testing identified markedly elevated succinylpurines (succinyladenosine (S-Ado) and SAICA-riboside (SAICAr)) in urine and serum. Rapid whole-genome sequencing (WGS) confirmed autosomal recessive ADSLD. In the absence of disease-modifying therapy and given the extremely poor prognosis, care was transitioned to comfort-focused palliation. ADSLD should be considered in neonates presenting with severe microcephaly, profound hypotonia, and early epileptic encephalopathy. Rapid genomic testing, when available and clinically appropriate, may enable timely etiologic diagnosis, supporting prognostication and shared decision-making.