Bilateral deep brain stimulation (DBS) of globus pallidus internus (GPi) for the treatment of benign hereditary chorea and other childhood onset choreas: a single-center experience.

Purpose: Chorea is a clinical sign characterized by involuntary, rapid, unpredictable, and irregular muscle movements that can affect various parts of the body. It can be seen in various medical conditions, both neurological and systemic, of genetic and acquired etiology. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been used to treat various types of chorea.

Novel Biallelic Synonymous Exonic Variant in Affecting mRNA Splicing: Case Report.

Objectives: Chorea-acanthocytosis is an autosomal recessively inherited condition caused by loss-of-function pathogenic variants in . We identified a novel synonymous exonic variant leading to abnormal mRNA splicing in a patient with chorea-acanthocytosis.

Methods: A patient with focal epilepsy developed generalized chorea with orolingual dystonia, cognitive decline, and peripheral neuropathy, consistent with chorea-acanthocytosis.

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.

Background: Heterozygous variants of sequestosome-1 gene (SQSTM1) have been reported in patients with various neurological disorders, whereas biallelic pathogenic variants of SQSTM1 can cause child-onset and multisystem neurodegeneration, including cerebellar ataxia, dystonia, and vertical gaze palsy (NADGP). Here, we describe two cases of NADGP in a Japanese family.

Methods: We performed clinical and genetic laboratory evaluations of the two patients and their healthy parents.

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.

Neuroacanthocytosis: Case report and neuroimaging findings.

Neuroacanthocytosis syndromes are rare inherited neurodegenerative disorders, characterized by the presence of acanthocytes. Among them, Choreoacanthocytosis and McLeod syndrome stand out, sharing similarities with Huntington's disease, including choreic movement disorders, psychiatric symptoms, and cognitive decline. The case described involves a 36-year-old patient with cognitive deficits, involuntary movements, and ataxic gait.

Neuromodulation Systems in the Setting of Cochlear Implant Treatment Based on Case Reports and Literature Review.

Objectives: Cochlear implants are an established and proved method for auditory rehabilitation. In addition, neuromodulation systems for treating severe movement and pain disorders are gaining importance. To date, there is limited information regarding the concurrent use of the various implanted systems and potential electromagnetic interferences.

Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia.

DHDDS-related epilepsy with hippocampal atrophy: a case report.

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.

Subtle bradykinesia features are easier to identify and more prevalent than questionable dystonia in essential tremor.

Essential tremor (ET) is characterized by upper limbs action tremor, sometimes extending to other body parts. However, ET can present with additional neurological features known as "soft signs." These signs of uncertain clinical significance are not sufficient to suggest an alternative neurological diagnosis, and include, among others, questionable dystonia and subtle voluntary movement alterations, i.

The Prevalence of Creak Across Breath Groups in Adductor Laryngeal Dystonia.

Objective: Creak is an acoustic feature found to discriminate speakers with adductor laryngeal dystonia (AdLD) from typical speakers with outstanding diagnostic accuracy. Yet creak is also used by typical speakers as a phrase-boundary marker. This study aims to compare the prevalence of creak across estimated breath groups in speakers with AdLD and controls to delineate physiological mechanisms underlying creak in AdLD.

Magnetic resonance-guided focused ultrasound in dystonia: a scoping review.

Background: Magnetic resonance guided focused ultrasound (MRgFUS) is a non-invasive therapeutic technique that utilizes focused ultrasound waves to generate heat at specific tissue targets within the brain. This emerging technology holds promise for its precision and potential benefits in comparison to traditional surgical interventions. This investigation involves a scoping review, summarizing insights from various studies that explore the advantages, limitations, and outcomes associated with MRgFUS in the treatment of dystonia.

Deep Learning Recognition of Paroxysmal Kinesigenic Dyskinesia Based on EEG Functional Connectivity.

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder marked by transient involuntary movements triggered by sudden actions. Current diagnostic approaches, including genetic screening, face challenges in identifying secondary cases due to symptom overlap with other disorders. This study introduces a novel PKD recognition method utilizing a resting-state electroencephalogram (EEG) functional connectivity matrix and a deep learning architecture (AT-1CBL).