Mitochondria are organelles that are able to adjust and respond to different stressors and
metabolic needs within a cell, showcasing their plasticity and dynamic nature. These …

Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most
common inheritance pattern is autosomal dominant, though there also are X-linked and …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

Introduction Peripheral neuropathy represents a spectrum of diseases with different
etiologies. The most common causes are diabetes, exposure to toxic substances including …

Abstract Charcot–Marie–Tooth disease and the related disorders hereditary motor
neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the …

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most
frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 …

This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …

Objective To investigate the effectiveness of targeted next-generation sequencing (NGS)
panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and …