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…Intergenerational repeat instability of TTTCA expansions in SAMD12 might be the major cause of the genetic anticipation in familial cortical myoclonic tremor with epilepsy
Objective: To delineate and analyze the relationship between genetic and clinical features in 78 patients from 23 familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) pedigrees. Background:…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…Ataxia and action myoclonus with biallelic mutations in ATP13A2 gene
Objective: Here we report a patient with late-onset ataxia-myoclonus syndrome harboring mutations in the ATP13A2 gene. Background: Mutations in ATP13A2 gene have been causally associated…A case report of myoclonus-dystonia with isolated myoclonus phenotype and novel mutation successfully treated with deep brain stimulation
Objective: Report the case of a patient with a novel SGCE gene mutation and isolated myoclonus phenotype who was successfully treated with deep brain stimulation…