A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients
Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…Genotype-phenotype correlations in 104 Uzbekish families with Spinocerebellar ataxias
Objective: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with…Intellectual disability with spastic ataxia: Atypical Infantile neuroaxonal dystrophy with absent spheroids
Objective: Introduction Developmental regression with spastic ataxia is a syndrome with differentials being leukodystrophy, HSP, Frederich’s ataxia, ARSACS, cerebrotendinous xanthomatosis etc.Neuronal brain iron deposition is…Objective Measures of Ataxic Gait Using Wearable Inertial Sensors
Objective: To investigate whether gait measures from wearable inertial sensors were sensitive to ataxia and related to SARA scores in patients with SCA. Background: Clinical…Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…Cervical dystonia priori to ataxia in spinocerebellar ataxia type 3 patients
Objective: To report two cases of SCA3 who presented with cervical dystonia as a prominent feature or sole manifestation for many years prior to development…Clinico-genetic correlation in Indian Spinocerebellar ataxia Type 1 (SCA1) patients
Objective: To conduct a clinical and genetic analysis of SCA 1 in Indian population. Background: Spinocerebellar ataxia type1 (SCA1) is a neurodegenerative disease caused by…Ocular flutter, generalized myoclonus and ataxia syndrome associated with Human Immunodeficiency Virus: A case report
Objective: Postinfectious ocular flutter and truncal ataxia have been described after infections with enterovirus, cytomegalovirus and human immunodeficiency virus (HIV). We report a patient with…MicroRNAs Unveil Metabolic Imbalance in Spinocerebellar Ataxia Type-2
Objective: To correlate differentially expressed non-coding microRNA of peripheral blood mononuclear cells (PBMCs) with SCA2 pathogenesis. Background: Spinocerebellar ataxia aype-2 (SCA2), the most common SCA…Evaluation of Balance in Hereditary Ataxias
Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.