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,…Genetic and phenotypic characterization of ATX-FAT2 (SCA45) in three Indian families
Objective: Delineation of clinical and genetic features of Spinocerebellar ataxia 45 (SCA45) in three families of Indian origin. Background: SCA45 has been reported in few…Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England
Objective: To identify the prevalence and phenotype of patients with biallelic pathogenic SPG7 mutations Background: Spastic Paraplegia Type 7 (SPG7) is an autosomal recessive disorder…Progressive myoclonic epilepsy ataxia syndrome associated with NUS1 gene mutation
Objective: To describe a rare case of NUS1 gene mutation related progressive epilepsy myoclonus ataxia syndrome. Background: Pathogenic variants of NUS1 gene have been associated…Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…Late-onset cerebellar ataxia revealing a Pantothenate-kinase-associated neurodegeneration
Objective: Recall a case of genetic late-onset cerebellar ataxia with a specific clinical and radiological feature highly suggestive of Pantothenate-kinase-associated neurodegeneration(PKAN). Background: Cerebellar ataxia is…FGF14 repeat expansions: Case series of adult-onset cerebellar ataxia patients from Serbia
Objective: The aim of this study was to investigate the presence of pathogenic repeat expansion in the FGF14 gene in patients with adult-onset cerebellar ataxia…FRMD5 de novo variants in two cases with childhood onset ataxia and seizures
Objective: To describe two cases affected by childhood onset ataxia and seizures carrying de novo variants in the gene FRMD5 Background: FRMD5 belongs to the…
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