. has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition of gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor. . We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls. . No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. . exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, and may not be the cause of familial Parkinson's disease and essential tremor in China.
Spasmodic dysphonia (SD) is now generally considered to be a task-specific focal dystonia. For the first time, we wanted to explore the relationship between SD and dystonia from a combined neurological and phoniatric perspective. For this, we studied 115 patients with non-psychogenic SD by a combined neurological and phoniatric evaluation.
Background: While previous imaging studies have generally shown normal striatal dopamine transporter (DAT) binding in essential tremor (ET), emerging evidence suggests a partial dopaminergic mechanism in this condition and an epidemiological link between ET and Parkinson's disease (PD). This link seems particularly meaningful in ET patients with additional neurological signs, such as slowness of movements, rigidity, or rest tremor (ET+).
Objectives: To investigate the potential dopaminergic pathophysiology of ET+ and to compare it to PD.
Background: Essential tremor (ET) is among the most common movement disorders, yet there are few treatment options. Medications have limited efficacy and adverse effects; thus, patients often discontinue pharmacotherapy or take several medications in combination. We evaluated the economic correlates (healthcare resource utilization [HCRU] and costs) and comorbidities among adults with and without ET and among subgroups of patients with ET prescribed 0 to ≥3 ET medications.
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.
