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Your search keyword '"Daniele, Velardo"' showing total 2 results
Start Over Author "Daniele, Velardo" Journal annals of clinical and translational neurology
2 results on '"Daniele, Velardo"'

1. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

Author

Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, and Stefania Corti

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN). Methods Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations, neurophysiological studies, and next‐generation sequencing with subsequent bioinformatic prioritization of genetic variants and in silico analysis of the likely causal mutation. Results The HSPB1 p.S135F and p.R136L mutations were identified in homozygosis in the two affected individuals. Both mutations affect the highly conserved alpha‐crystallin domain and have been previously described as the cause of severe CMT2F/dHMN, showing a strictly dominant inheritance pattern. Interpretation Thus, we report for the first time two cases of biallelic HSPB1 p.S135F and p.R136L mutations in two families.

Published
2021
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2. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

Author

Davide Pareyson, Stefania Corti, Franco Taroni, Dario Ronchi, Francesca Balistreri, Giulia Manenti, Nereo Bresolin, Chiara Pisciotta, Paola Saveri, Daniele Velardo, Megi Meneri, Elena Abati, Giacomo P. Comi, and Stefania Magri

Subjects
0301 basic medicine, Prioritization, animal structures, In silico, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, medicine.disease_cause, 03 medical and health sciences, Tooth disease, 0302 clinical medicine, Heat shock protein, Medicine, RC346-429, Gene, Genetics, Mutation, Case Study, business.industry, General Neuroscience, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), Dominant inheritance, business, 030217 neurology & neurosurgery, RC321-571
Abstract

Objective This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN). Methods Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations, neurophysiological studies, and next‐generation sequencing with subsequent bioinformatic prioritization of genetic variants and in silico analysis of the likely causal mutation. Results The HSPB1 p.S135F and p.R136L mutations were identified in homozygosis in the two affected individuals. Both mutations affect the highly conserved alpha‐crystallin domain and have been previously described as the cause of severe CMT2F/dHMN, showing a strictly dominant inheritance pattern. Interpretation Thus, we report for the first time two cases of biallelic HSPB1 p.S135F and p.R136L mutations in two families.

Published
2021

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