Riccardo Ronco
A5057028741- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Heat shock proteins research
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Hereditary Neurological Disorders
- RNA regulation and disease
- Mitochondrial Function and Pathology
National Hospital for Neurology and Neurosurgery
2022-2024
University College London
2022-2024
University of Pavia
2022-2024
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult-onset slowly progressive sensory cerebellar dysfunction, impairment. In most cases, the caused biallelic (AAGGG)n repeat expansions in second intron of replication factor complex subunit 1 (RFC1). However, a small number cases with typical CANVAS do not carry common expansion. The objective this study was to expand genotypic spectrum identifying...
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Abstract Background and purpose Mutations in the alpha‐B‐crystallin ( CRYAB ) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy cataracts. For first time, peripheral neuropathy is reported here as a novel phenotype CRYAB. Methods Whole‐exome sequencing was performed two unrelated families genetically unsolved axonal Charcot–Marie–Tooth disease (CMT2), assessing clinical, neurophysiological radiological features. Results The pathogenic variant...