Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42
Objective: We describe the case of a family of 2 female siblings of Indian subcontinent with genetically proven SCA 42 Background: Spinocerebellar ataxia (SCA) are…Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
Objective: We aim to find the genetic defect causing infantile-onset ataxia and mild demyelinating neuropathy in two siblings of an Italian consanguineous family. Background: Neurofascin…Non-CpG methylation in the FXN gene in patients with Friedreich’s ataxia
Objective: To compare methylation profiles of non-CpG sites in the FXNgene in patients with Friedreich’s ataxia (FA), their heterozygous relatives and a healthy control group. Background: FA is…PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Spinocerebellar ataxias in Southern Brazil: genotypic and phenotypic evaluation of 213 families
Objective: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs. Background: Spinocerebellar Ataxias (SCAs) are neurodegenerative diseases with autosomal dominant inheritance…Encephalomyelopathy Due to Cerebrotendinous Xanthomatosis
Objective: To present a case in which the MRI of a patient with cerebrotendinous xanthomatosis (CTX) revelaled impairment of whole neuroaxis. Background: CTX is a…Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India
Objective: Comparison of two next generation platform to screen ARCA patients in Indian population Background: India is deficient with the molecular screening of the ARCAs.…Neuropathology in a case of HD-like syndrome caused by mutations in RNF216
Objective: To describe the neuropathology in a rare case of autosomal recessive HD like syndrome due to homozygous RNF216 mutations. To confirm the hypothesis of…Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…
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