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…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:…Spinocerebellar ataxia 21 and phenotypic variability within a family
Objective: We describe four patients within a family who presented to our movement disorders centers for evaluation of various symptoms including unsteady gait, tremor, and…Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay
Objective: Spinocerebellar Ataxia Type 5 (SCA5) is an uncommon cause of cerebellar ataxia with onset generally within the third and the fourth decade and a…Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48
Objective: Genetic and phenotypic characterization of six patients from two families, with pathogenic variants on the STUB1 gene. Background: Biallelic pathogenic variants on the STUB1…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…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…
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