Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double-stranded RNA (mt-dsRNA). This mechanism connects mitochondrial disease to interferonopathies such as Aicardi-Goutières syndrome (AGS). We describe a 7-month-old female infant with compound heterozygous PNPT1 variants presenting with severe hypotonia, feeding difficulties necessitating gastrostomy, dystonia, and elevated serum lactate. Brain magnetic resonance imaging (MRI) demonstrated marked cerebellar, brainstem, and basal ganglia atrophy, with a lactate peak on MR spectroscopy (consistent with an inverted doublet). Serum immune profiling revealed a mild but elevated type I IFN signature. Given the mechanistic overlap with AGS, off-label tofacitinib, a Janus kinase (JAK) inhibitor that blocks IFN-driven JAK/STAT signaling, was initiated following pediatric interferonopathy dosing protocols. Tofacitinib was associated with normalization of serum type I IFN biomarkers, reduction in lactate and transaminases, improvement in dystonic movements, ventilatory stability, and improved growth/nutrition without treatment-limiting adverse events. To our knowledge, this represents the first reported use of JAK inhibition in COXPD13. The observed clinical and biochemical stabilization supports defining COXPD13 as a "mitochondrial interferonopathy" and suggests that IFN-signature screening may identify mitochondrial disease patients who could benefit from targeted immunomodulation.

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.

A male combat veteran in his late 40s presented with debilitating chronic neck pain, involuntary cervical muscle spasms, rightward head tilt and headaches occurring more than 15 days per month after cumulative cervical trauma from blast exposures and over 350 parachute jumps. He was diagnosed with post-traumatic cervical dystonia and treated with onabotulinumtoxinA injections to the procerus, bilateral corrugator, frontalis, temporalis, occipitalis, cervical paraspinal and upper and lower trapezius muscles. Ninety days after the first injection cycle he reported 85%-90% improvement in pain, spasms and headache frequency, with sustained 90% improvement across treatments. He experienced over 100 fewer headache hours and seven fewer headache days per month compared with baseline. Mild symptom recurrence during the final week of his 90-day interval led to adjustment to a 12-week schedule, resulting in improved consistency of relief. Botulinum toxin type A therapy provided substantial and consistent improvement in this case of post-traumatic cervical dystonia.

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.

Focal dystonia is a movement disorder characterized by involuntary muscle contractions resulting in abnormal postures and repetitive movements. Beyond motor impairment and physical disfigurement, dystonia is increasingly recognized as a network disorder with intrinsic non-motor symptoms, including body image concerns and psychological distress, which significantly affects quality of life (QoL). This study examined the psychosocial correlates of different forms of focal dystonia, focusing on altered body image, severity of anxiety and depression, and QoL in 19 patients with focal dystonia, 18 patients with hyperhidrosis (HH), and 13 patients with hemifacial spasm (HFS) as clinical control groups. Participants completed standardized tests including the Beck Depression Inventory-II for depression, the State-Trait Anxiety Inventory-Y2 for anxiety, the Body Uneasiness Test (BUT) for body image perception, and the 36-item Short Form Health Survey (SF-36) for QoL. Post-hoc comparisons revealed significant differences in both BUT and SF-36 scores between groups. Cervical dystonia (CD) patients had higher depersonalization symptoms than HH patients (BUT-D: 0.5 ± 0.7 vs. 0.1 ± 0.1; p = .027). CD patients also reported lower SF-36 Physical Role scores (55.6 ± 44.7) compared to blepharospasm (BPS) (87.5 ± 31.7), HH (95.8 ± 17.7), and HFS (65.4 ± 43.9) (p < .001). In contrast, BPS patients scored higher on SF-36 Emotional Role (90.0 ± 31.6) and SF-36 Social Functioning (89.9 ± 14.3) than CD (SF-36-ER: 70.2 ± 39.0, p < .001; SF-36-SF: 80.4 ± 25.1, p < .001). Depression and anxiety scores were below clinical thresholds and did not differ significantly between groups. These results support the view that non-motor symptoms are core features of focal dystonia, particularly in CD, and emphasize the need to address psychological and body image-related aspects in clinical management and future models of the disorder.

THAP1-associated dystonia (DYT-THAP1) is classically described as an early-onset disorder with craniocervical involvement and potential for generalization. However, increasing reports suggest a broader phenotypic spectrum, including adult-onset presentations. We aimed to characterize the clinical phenotype of genetically confirmed DYT-THAP1 with age at onset ≥ 40 years, and to highlight an illustrative case. A scoping review was conducted following Joanna Briggs Institute methodology. Comprehensive searches of PubMed, MDSGene, Google Scholar, and regional databases identified studies reporting patient-level clinical data in individuals with genetically confirmed THAP1 mutations and late-onset disease. Data on age of onset, site of onset, distribution, sex, family history, mutation geste antagoniste were extracted and synthesized descriptively. Twenty-two studies comprising 50 patients met the set inclusion criteria. Cranial dystonia was the most common site of onset (n = 22), followed by cervical (n = 13), while limb onset was uncommon. Most patients presented with segmental distribution (n = 27), followed by focal (n = 20), and only 3 cases demonstrated generalized involvement. The majority of cases were sporadic (37/50). Associated clinical features and geste antagoniste were infrequently and inconsistently reported across studies. We additionally present a Filipina with late-onset focal lower limb dystonia, further highlighting an atypical pattern of limb onset. Collectively, these findings suggest that late-onset THAP1-associated dystonia may exhibit a phenotype distinct from classical early-onset presentations characterized by cranial and cervical predominance, segmental distribution, and frequent sporadic occurrence. Recognition of this broader phenotypic spectrum may facilitate consideration of genetic etiologies in adult-onset dystonia, even in the absence of a family history.

Dystonia is characterized by involuntary intermittent or sustained abnormal movements or postures. Deep brain stimulation (DBS) is an effective treatment, and response has been shown to vary across body regions but literature depicting this pattern is conflicting. Our study analyzes dystonia response to DBS by body distribution using the Burke-Fahn-Marsden Rating Scale motor (BFMRS-M) score and the Global Dystonia Rating Scale (GDRS).

The ATP2B2 is associated with the development of hereditary conditions, including ataxia, dystonia, and intellectual disabilities. Recent research has established a connection between the ATP2B2 gene and a newly identified disorder characterized by delays in mental, speech, and motor development. This article presents a case study involving a patient diagnosed with autism spectrum disorder and intellectual disability, who possesses a previously unreported heterozygous variant in the ATP2B2 gene. This variant results in the loss of the stop codon, potentially leading to an elongation of the protein chain (c.3732G>C/p.Ter1244TyrextTer137, NM_001001331.2). The findings also provide additional data on the phenotype associated with this novel ATP2B2-related neurodevelopmental disorder, thereby enriching the understanding of this rare condition.