Surface Electromyography for the Diagnosis of Tremor Syndrome: A Study of 97 Patients.

Background And Objectives: Tremor is one of the most frequent movement disorders encountered in clinical practice with heterogeneous phenomenology and etiology. Surface electromyography (SEMG) is a noninvasive and reproducible test that can diagnose tremor syndromes.

Methods: In this retrospective study, the clinical and electrophysiologic records of 97 consecutive patients with tremor syndromes who visited our movement disorder clinic between January 2023 and March 2024 were examined.

Intermuscular coherence during co-contraction eliciting tasks as a biomarker for dystonia and GPi-DBS efficacy.

Objective: Clinical rating scales often fail to capture the full spectrum of dystonic symptoms. Deep brain stimulation of the globus pallidus interna (GPi-DBS) effectively treats dystonia, but response variability necessitates a reliable biomarker. Intermuscular coherence (4-12 Hz) has been linked to abnormal activity in the cortico-basal ganglia-thalamo-cortical (CBGTC) loop and may serve as an objective measure of dystonia and GPi-DBS effectiveness.

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

Aim: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood.

Method: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models.

Acute Bilateral Vocal Cord Paralysis in a Patient With Anti-Leucine-Rich Glioma-Inactivated 1 (LGI1) Limbic Encephalitis.

Autoimmune encephalitis is a disorder characterized by an autoantibody-mediated process that leads to brain inflammation. It is associated with neurological symptoms including cognitive issues, psychiatric problems, seizures, and autonomic dysfunctions. Anti-leucine-rich glioma-inactivated 1 limbic encephalitis (anti-LGI1 LE) is a rare type of autoimmune LE with a unique presentation, comprising neuropsychiatric disturbances, sleep disorders, and faciobrachial dystonic seizures (FBDS).

Decoding Dystonia in Autoimmune Disorders: A Scoping Review.

Background: Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner.

Risk of Spreading in Adult-onset Dystonia.

Background: Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.

Objective: Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.

Methods: We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center.

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.

Background/objectives: KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of a genome methylation episignature methodology to functionally validate two variants of uncertain significance (VUS) in the KMT2B gene.

Methods: Genome-wide methylation status was assessed using the EPIC methylation assay in peripheral blood samples from two subjects with early onset movement disorder and missense variants of uncertain significance in the KMT2B gene (p.

Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Background: Lipoyl transferase 2 is involved in the biosynthesis of lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017.

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser).

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.

A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements.

Heterotopic Osteotomy for Intrathecal Baclofen Test Dose Administration in a Pediatric Patient With Spinal Fusion: A Technical Note.

Background And Importance: Intrathecal baclofen (ITB) pumps are used for the treatment of pediatric movement disorders that are rapidly progressive or do not respond to medical management. An ITB test dose is indicated in patients who have mixed tone, when the family remains unconvinced, or when insurance companies require it. Test doses are typically delivered by lumbar puncture; however, lumbar puncture in patients with heterotopic ossification of the lumbar vertebrae after a previous spinal fusion is not possible.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.

Variants in the PRKRA gene, which encodes PACT, cause the early-onset primary dystonia DYT-PRKRA, a movement disorder associated with disruption of coordinated muscle movements. PACT and its murine homolog RAX activate protein kinase R (PKR; also known as EIF2AK2) by a direct interaction in response to cellular stressors to mediate phosphorylation of the α subunit of eukaryotic translation initiation factor 2 (eIF2α). Mice homozygous for a naturally arisen, recessively inherited frameshift mutation, Prkralear-5J, exhibit progressive dystonia.

Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs.

Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism.

Aims: Although the genetic locus of X-linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well-characterized, the exact mechanisms leading to neuronal loss are not yet fully understood. Recently, we demonstrated an increase in myeloperoxidase (MPO) levels in XDP postmortem prefrontal cortex (PFC), suggesting a role for inflammation in XDP pathogenesis. Therefore, we hypothesized that inhibiting MPO could provide a therapeutic strategy for XDP.

Long-term motor learning in focal hand dystonia.

Objective: Because focal hand dystonia usually occurs in the over-learned stage, it would be valuable to know long-term motor learning characteristics and underlying pathophysiological features that might predispose to dystonia.

Methods: We conducted a case-control exploratory study of 15 visits over 12 weeks in the non-affected hand of a 4-finger sequence of 8 key presses in eight patients with FHD compared with eight age- and sex-matched, healthy volunteers (HVs). We studied the behavioral data and the physiological changes of the brain, including motor cortical excitability and cortical oscillations.