Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias
Objective: To characterise the phenotypic and radiological spectrum of patients with early onset non-dominant progressive cerebellar ataxias and to assess the impact of the disease…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…The phenotypic landscape and genetic profile of movement disorders in a cohort of tunisian children
Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.…Low serum vitamin E in a genetically confirmed Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To report a case of ARSACS associated with low serum vitamin E. Background: Ataxia with vitamin E deficiency (AVED) presentation varies but usually starts…Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Objective: In this study, we aimed to examine clinically and genetically a patient series with ataxia from southern Sweden with known or unknown genetic causes.…Case report on heterozygous OPA3 gene mutation causing ataxia
Objective: To describe a case of adult-onset ataxia with a heterozygous p.Lys10Asn OPA3 mutation. Background: Mutations in the OPA3 gene, which encodes a mitochondrial membrane…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia
Objective: To describe two familiar cases of hypoceruloplasminemia presenting with movement disorders Background: Aceruloplasminemia is a metabolic disorder caused by mutations in the ceruloplasmin (CP)…First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline
Objective: To delineate the clinical presentation, exam phenomenology, brain MRI findings and to review the literature of the first reported adult-onset case of ultrarare ERCC1…
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