Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man
Objective: Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia. Background: In 2007 mutations in the SYNE1 gene were found to cause a…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…A homozygous pentanucleotide repeat expansion in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To identify the genetic cause in patients with CANVAS recruited at the University Hospital of Schleswig-Holstein, Campus Lübeck. Background: CANVAS is a late-onset neurological…The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report
Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation． Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…Phosphodiesterase inhibitors as a treatment for Friedreich’s ataxia
Objective: To evaluate the effect of phosphodiesterase inhibitors, as potential treatment for Friedreich’s ataxia, in a Drosophila melanogaster model of the disease. Background: Friedreich’s ataxia…A novel TGM6 heterozygous mutation in a patient with cerebellar ataxia
Objective: To report a novel heterozygous missense mutation of TGM6 in a patient with cerebellar ataxia. Background: Mutations in TGM6 have been recently implicated in…POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype
Objective: To characterize genetics and epigenetics factors contributing to the origin and accounting to the Cuban SCA2 phenotype variability. Background: CAG repeat expansions in ATXN2…Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
Objective: To describe a novel mutation p.Pro193Arg of the ABCD1-Gene in a patient presenting with clinical phenotype of Adrenomyeloneuropathy (AMN). Background: Adrenoleukodystrophy comprises progressive neurologic…
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