Targeted sequencing of regulatory regions shows potential SNVs affecting FXN gene expression in Friedreich’s ataxia patients
Objective: To investigate variations in regulatory regions of the FXN gene hampering its expression in Friedreich’s Ataxia (FRDA) patients. To investigate variations in regulatory regions…Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.
Objective: To describe a case of two related individuals with cerebellar ataxia with a novel variant in the calcium voltage-gated channel subunit alpha1-A (CACNA1A) gene.…Cerebellar ataxia in Hypomyelinating Leukodystrophies: A case series
Objective: We present a case series of cerebellar ataxia due to hypomyelinating leukodystrophies (HLDs). Background: HLDs are a group of disorders arising from primary deficit…Episodic ataxia type 2: a previously undescribed variant in the CACNA1A gene
Objective: To describe a previously unreported variant in the CACNA1A gene in a patient with episodic ataxia type 2 (EA2) phenotype. Background: EA2 is the…Generalized chorea, cerebellar ataxia and spastic tetraparesis with a genetic mutation in FAT2 gene – coincidence or a new SCA45 phenotype?
Objective: To present what might be a new phenotype of spinocerebellar ataxia type 45. Background: Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant,…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…
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