Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Dandy-Walker syndrome. A case study.
Objective: Present a case study with rare congenital disease for further сreating a database and developing algorithms for the management of such cases in the…Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family
Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…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…Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation
Objective: We describe a patient with a novel ATM gene variant presenting with tremor, neuropathy, and late-onset ataxia. Background: Ataxia Telangiectasia (AT) is an autosomal…Progressive Cerebellar Ataxia as the Predominant Symptomatology of SGP-7 Compound Heterozygote Pathogenic Variants related HSP-7
Objective: Analyze a clinical case detailing the presentation of a patient primarily exhibiting gradual onset balance disturbances, subsequently diagnosed with HSP-7, elucidating key diagnostic challenges…Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements
Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…
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