A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent
Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis. Background: AT is a rare autosomal recessive…Abnormal Gait in Cerebrotendenious Xanthomatosis a case report
Objective: To identify patients with Cererotendenious xanthomatosis. To present the neurological spectrum of the disease. Background: Cerebrotendenious xanthomatosis is a rare lipid storage disease due…Brain and spinal cord structural alterations in non-ataxic and ataxic SCA3 mutation carriers
Objective: As new therapies for SCA3 are on the horizon, there is an urgent need to identify and validate sensitive biological markers that reflect the…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…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…Study of eye movements as a tool in the diagnosis hereditary ataxias
Objective: To study ocular movements (ocular pursuit, nystagmus and saccades) in the most frequent ataxias (SCA2, SCA3 and Friedreich's ataxia), to find out which variables…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…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…Onset symptoms and time to diagnosis in Friedreich´s Ataxia
Objective: In the present study, we aimed at analyzing onset symptoms in Friedreich Ataxia on the basis of natural history data from the EFACTS registry…Opsoclonus-myoclonus-ataxia syndrome associated to rubella
Objective: Reporting exceptional etiology of OMS and remembering spectrum of neurological manifestations of rubella. Background: Opsoclonus-myoclonus-ataxia (OMS) is a rare child clinical paraneoplastic syndrome. OMS…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.