Peripheral motor and sensory nerve conduction studies in normal infants and children

García, Antonio García y; Calleja, Jesús; Antolín, Francisco; Berciano, José

doi:10.1016/s1388-2457(99)00279-5

Cited by 61 publications

(52 citation statements)

References 17 publications

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“…Nerve conduction studies were performed and recorded in all patients except one (F4 [P1]), following a conventional protocol [16] using surface electrodes and stimulator. Age-appropriate reference values were utilized for interpretation [17-19]. Motor conduction study in the upper limbs was done for the median nerve in 7 and for the ulnar nerve in 2 patients, while it could not be performed in one patient (F1 [P1]), because of the presence of bedsores and contracture deformities.…”

Section: Methodsmentioning

confidence: 99%

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

et al. 2013

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Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report detailed clinical, electrophysiological, neuroimaging, histologic, biochemical and genetic characterization of 11 patients, from 6 consanguineous families, who were followed for a period of up to 17 years. Cerebellar atrophy was constant and the earliest feature of the disease preceding brain iron accumulation, leading to the provisional diagnosis of a recessive progressive ataxia in these patients. Ultrastructural characterization of patients’ muscle biopsies revealed focal accumulation of granular and membranous material possibly resulting from defective membrane homeostasis caused by disrupted PLA2G6 function. Enzyme studies in one of these muscle biopsies provided evidence for a relatively low mitochondrial content, which is compatible with the structural mitochondrial alterations seen by electron microscopy. Genetic characterization of 11 patients led to the identification of six underlying PLA2G6 gene mutations, five of which are novel. Importantly, by combining clinical and genetic data we have observed that while the phenotype of neurodegeneration associated with PLA2G6 mutations is variable in this cohort of patients belonging to the same ethnic background, it is partially influenced by the genotype, considering the age at onset and the functional disability criteria. Molecular testing for PLA2G6 mutations is, therefore, indicated in childhood-onset ataxia syndromes, if neuroimaging shows cerebellar atrophy with or without evidence of iron accumulation.

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Section: Methodsmentioning

confidence: 99%

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

et al. 2013

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“…Blink reflex, somatosensory evoked potentials (SEP), brainstem auditory evoked potentials (BAEP) and motor evoked potentials (MEP) were performed according to standard methods [32]. Normative nerve conduction data in patient IV-1 were taken from CruzMartínez et al [33] and García et al [34].…”

Section: Electrophysiological Studymentioning

confidence: 99%

NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

et al. 2015

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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 comprised two patients, the proband and her son, aged 38 and 5 years. The proband, evaluated at age 31, showed delayed motor milestones that, as of the second decade, evolved into severe phenotype consisting of sensorimotor neuropathy, pes cavus, clawing hands, gait and kinetic cerebellar ataxia, nystagmus and dysarthria, she being wheelchair bound. By then, a working diagnosis of sporadic early onset cerebellar ataxia with peripheral neuropathy was established. Screening of mutations associated with SCA and autosomal recessive cerebellar ataxias was negative. Her son showed a mild phenotype characterized by delayed motor milestones, and lower-limb hypotonia and areflexia. Electrophysiology in both patients showed nerve conduction slowing in the intermediate range, both in proximal and distal nerve segments, but where compound muscle action potentials exhibited severe attenuation there was conduction slowing down to the demyelinating range. In the proband, cranial magnetic resonance imaging (MRI) showed cerebellar atrophy, electromyography disclosed active denervation in tibialis anterior, and MRI of lower-limb musculature demonstrated widespread and distally accentuated muscle fatty atrophy; furthermore, on water sensitive MRI sequences there was edema of calf muscles. We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.

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“…Although the absolute latencies differ between studies (due to, e.g., different stimulation method, filter settings, vigilance state/anesthesia), the general rule is that until the age of approximately 3–5 years, the sep MN 30 and sef T 30 latency decreases and slightly increases thereafter (e.g., Laget et al, 1976; Lauronen et al, 1997; Boor and Goebel, 2000; Gondo et al, 2001; Bercovici et al, 2008; Doria-Lamba et al, 2009; Pihko et al, 2009). These latency changes reflect the increasing neural conduction velocities following myelination and maturation opposed by physical growth of the body and limbs (Müller et al, 1994; Boor and Goebel, 2000; García et al, 2000). …”

Section: Normal Development Of the Somatosensory Systemmentioning

confidence: 99%

Development of Human Somatosensory Cortical Functions â€“ What have We Learned from Magnetoencephalography: A Review

Nevalainen

Lauronen

Pihko

2014

Front. Hum. Neurosci.

107

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The mysteries of early development of cortical processing in humans have started to unravel with the help of new non-invasive brain research tools like multichannel magnetoencephalography (MEG). In this review, we evaluate, within a wider neuroscientific and clinical context, the value of MEG in studying normal and disturbed functional development of the human somatosensory system. The combination of excellent temporal resolution and good localization accuracy provided by MEG has, in the case of somatosensory studies, enabled the differentiation of activation patterns from the newborn’s primary (SI) and secondary somatosensory (SII) areas. Furthermore, MEG has shown that the functioning of both SI and SII in newborns has particular immature features in comparison with adults. In extremely preterm infants, the neonatal MEG response from SII also seems to potentially predict developmental outcome: those lacking SII responses at term show worse motor performance at age 2 years than those with normal SII responses at term. In older children with unilateral early brain lesions, bilateral alterations in somatosensory cortical activation detected in MEG imply that the impact of a localized insult may have an unexpectedly wide effect on cortical somatosensory networks. The achievements over the last decade show that MEG provides a unique approach for studying the development of the somatosensory system and its disturbances in childhood. MEG well complements other neuroimaging methods in studies of cortical processes in the developing brain.

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Peripheral motor and sensory nerve conduction studies in normal infants and children

Cited by 61 publications

References 17 publications

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

Development of Human Somatosensory Cortical Functions â€“ What have We Learned from Magnetoencephalography: A Review

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