Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant
Objective: To identify the underlying genetic cause of a childhood-onset spasticity-ataxia-tremor syndrome in a 31-year-old woman. Background: Biallelic variants in VPS13D have been linked to…A novel RFC1 repeat motif (ACGGG) in a patient with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
Objective: To present a case with CANVAS with a novel repeat motif. Background: CANVAS is a late-onset neurological syndrome of combined vestibular, neuropathic, and cerebellar dysfunction. Biallelic,…Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Endocannabinoid Dysfunction in Human Disease: Neuro-Ocular DAGLA-related Syndrome (NODrS), a unique pediatric condition
Objective: To define a new pediatric movement disorder and conclusively link the endocannabinoid system to human disease. Background: The endocannabinoid system is a highly conserved…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…
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