Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11
Objective: To describe a case of spinocerebellar ataxia type 11 caused by the copy number variant 43008859_43075833 on the TKKB2 gene Background: The spinocerebellar ataxias…LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2
Objective: Assessing the role of LIG1 Exon 6 A→C polymorphism acting as a modifier of clinical severity in patients with Spinocerebellar ataxia type 2 (SCA2).…DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…Conservative iron chelation for Neuroferritinopathy
Objective: Evaluate the safety and efficacy of a conservative mode of iron chelation with deferiprone 30 mg/kg/day in neuroferritinopathy to limit iron-related neurodegeneration and associated…3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.
Objective: 1. To study the miRNA binding site variations by direct sequencing of 3’ UTR of ATXN-2gene.2. To check the mRNA expression by using qRT-PCR…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5
Objective: A case of adult-onset ataxia with multiple neurologic deficits and ovarian dysgenesis was genetically diagnosed as Perrault syndrome 5 for the first time in…MR imaging features of Dentatorubral-pallidoluysian atrophy (DRPLA): a case report
Objective: To describe MRI signs suggestive of dentatorubral-pallidoluysian atrophy (DRPLA) that may warrant genetic testing. Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative…Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…Expanding the services of Neurogenetic Clinic – Lessons learnt from Cerebellar Ataxia cohort
Objective: We present an overview of patients seen by our Neurogenetic Clinic since 2019, focusing on the cerebellar ataxia (CA) cohort. Background: Diagnostic yield of…
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