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…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…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…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)…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…Milder presentation in two compound heterozygote cases of spastic paraplegias type 5
Objective: Describing two mild compound heterozygote SPG5A cases. Background: Hereditary spastic paraplegia type 5 (SPG5A) is an autosomal recessive neurodegenerative disease caused by variants in…Neuropsychological evaluation of cerebellar cognitive function in a series of patients with genetically confirmed CANVAS.
Objective: We aim to present the cerebellar cognitive affective evaluation and phenotypic description of a series of genetically confirmed CANVAS. Background: Cerebellar ataxia, neuropathy and…
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