Description of a series of GAA-FGF14 ataxia / SCA27b patients
Objective: To describe the main features of a series of 12 patients with GAA-FGF14 ataxia.To describe the main features of a series of 12 patients…Challenges in diagnosis of hereditary ataxia and spastic paraplegias
Objective: We aimed to investigate patients with hereditary ataxias (HA) and spastic paraplegias (HSP) followed in our hospital and to evaluate the percentage of patients…Clinical, imaging and genetic characteristics from an Indian ARSACS cohort
Objective: Provide insight into SACS mutations in India, by targeted gene panel of a suspected cohort. Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), caused…Mimics or multiplicity: two patients with a PSP phenotype and underlying genetic neurodegenerative disorders.
Objective: To describe a two cases of patients presenting with a PSP phenotype and genetic findings consisted with Huntington’s disease (HD) in one case and…Diagnosis of Niemann-Pick type C disease: adult onset form
Objective: We present a case of Niemann-Pick disease type C (NP-C) with adult onset. We review the clinical presentation, diagnosis and treatment of this rare…NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy
Objective: Describe a rare cause of progressive myoclonus, ataxia, developmental delay Background: 37-year-old man with normal birth but delays in developmental milestones presented for evaluation…Adult-onset Alexander’s disease – New causal mutation in GFAP gene
Objective: In the present study we describe a new mutation (p.L58P) in the GFAP gene and its functional consequences causing a phenotype with adult-onset Alexander’s…Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…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…Challenging diagnosis of familial Gerstmann-Straussler-Scheinker disease with normal brain image: a case report and systematic review
Objective: We report a case of familial Gerstmann-Straussler-Scheinker (GSS) disease, who presented with cerebellar ataxia, but did not show abnormalities in diffusion weighted image (DWI)…
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