Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Childhood onset progressive myoclonus and ataxia in a patient with novel TBC1D2B gene mutation
Objective: Myoclonus, ataxia, tremor and dystonia have been described in some patients with TBC1D2B gene mutation. In this paper we present a patient with progressive…Expanding the phenotypic spectrum of movement disorders in 22q11.2 deletion syndrome
Objective: To formally characterize the evolving spectrum of movement disorders associated with chromosome 22q11.2 deletion syndrome Background: Emerging evidence suggests that a wide range of…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…Pediatric Myoclonus-Dystonia misdiagnosed as CASPR2 encephalitis – a diagnostic challenge
Objective: Describe the clinical/laboratory challenges in diagnosis of myoclonus-dystonia at a young age Background: SGCE Myoclonus-Dystonia (SGCE-M-D) is a genetic movement disorder characterized by multifocal…Late Onset Ataxia, Myoclonus, and Cognitive Decline in a Patient with Xeroderma Pigmentosum: A Case Report
Objective: To present a case of late onset neurologic symptoms of ataxia, myoclonus, and cognitive impairment in a 37-year-old man with xeroderma pigmentosum (XP). Background:…The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants
Objective: To explore the phenotype of NUS1-related disorders and determine the spectrum of movement disorders in patients with NUS1 pathogenic variants. Background: A growing body…Two cases of myoclonic ataxia with and without epilepsy associated with NUS1
Objective: To describe two cases of myoclonic ataxia due to two novel NUS1 pathogenic variants Background: The genetic bases of myoclonus is not well defined. Myoclonus is…Progressive ataxia and palatal tremor due to a novel heterozygous GRIN2A mutation
Objective: Describe the case of a patient with adult-onset progressive ataxia and palatal tremor (PAPT) in association with a novel heterozygous mutation of the GRIN2A…BRAT1 associated neurodegeneration and review of literature
Objective: To describe the phenotype and genotype of a Mexican patient with epilepsy, mioclono and ataxia with a heterozygote polymorphism in the BRAT1 gene c.453_454insATCTTCTC…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.