13 Result(s)
within
Elena Gallardo
Neurosciences
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Article
Antioxidant Effect of Hydroxytyrosol, Hydroxytyrosol Acetate and Nitrohydroxytyrosol in a Rat MPP+ Model of Parkinson’s Disease
3,4-Dihydroxyphenyl ethanol, known as hydroxytyrosol (HTy), is a phenylpropanoid found in diverse vegetable species. Several studies have demonstrated that HTy is a potent antioxidant. Thus, our study is aimed...
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Article
Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review
Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction veloc...
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Article
Proximal nerve lesions in early Guillain–Barré syndrome: implications for pathogenesis and disease classification
Guillain–Barré syndrome (GBS) is an acute-onset, immune-mediated disorder of the peripheral nervous system. In early GBS, arbitrarily established up to 10 days of disease onset, patients could exhibit selectiv...
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Article
NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype
The purpose of this study was to describe a pedigree with NEFL N98S mutation associated with a dominant intermediate Charcot–Marie–Tooth disease (DI-CMT) and heterogeneous early-onset phenotype. The pedigree comp...
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Article
NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype
The purpose of the study was to describe a pedigree with NEFL E396K mutation associated with a novel dominant intermediate Charcot–Marie–Tooth disease (DI-CMT) phenotype. The pedigree comprised four patients over...
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Article
Evolution of Charcot–Marie–Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study
The objective of this study was to analyze Charcot–Marie–Tooth disease type 1A (CMT1A) evolution. We conducted a 2-year longitudinal study in 14 CMT1A patients and 14 age- and sex-matched controls. In the pat...
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Article
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion
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Article
Magnetic resonance imaging of lower limb musculature in acute motor axonal neuropathy
Magnetic resonance imaging (MRI) is an extremely useful technique to diagnose muscle denervation. This report presents an acute motor axonal neuropathy (AMAN) patient in whom, over 2 years, serial clinical-ele...
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Article
New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication
Forefoot pes cavus is a cardinal sign of Charcot–Marie–Tooth disease (CMT). This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Ass...
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Article
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
Incomplete penetrance has rarely been reported in Charcot–Marie–Tooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potenti...
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Article
Clinical progression in Charcot–Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family
Long-term follow-up studies in Charcot–Marie-Tooth disease type 1 duplication (CMT1A) are scanty. Here we describe a longitudinal study in a CMT1A pedigree. Our CMT1A pedigree comprised 11 examined patients, a...
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Article
Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family
The purpose of the present study was to describe clinico-electrophysiological features and lower limb muscle MRI findings in a CMT2J pedigree due to MPZ Thr124Met mutation. We examined the proband, aged 56 years,...
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Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication
In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) “classic” phenotype, as currently obse...
