Demyelinating prenatal and infantile developmental neuropathies

Yiu, Eppie M; Ryan, Monique M.

doi:10.1111/j.1529-8027.2012.00379.x

Cited by 14 publications

(13 citation statements)

References 191 publications

(357 reference statements)

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“…The review made by Yiu and Ryan 6 gives a useful methodology for the diagnostic approach of the child with neuropathy. Unlike in adult, in whom the main cause of neuropathy is diabetes, in children is genetic disease.…”

Section: Discussionmentioning

confidence: 99%

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family.

Martin¹,

Maradei²,

Velasco³

2015

Colomb Med

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Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

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Section: Discussionmentioning

confidence: 99%

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family.

Martin¹,

Maradei²,

Velasco³

2015

Colomb Med

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“…Storing DNA should be considered, as genetic screening is becoming more cost effective and available and preparing for this may enable families to gain diagnostic closure. Several publications expand on the many identified subtypes of CMT and the specific phenotypes related to them [18,64,74,81]. It is beyond the scope of this article to cover descriptions of all subtypes; only those most relevant are addressed here.…”

Section: Molecular Genetic Analysesmentioning

confidence: 98%

Diagnosis and Management of Pediatric Peripheral Neuropathies In Resource-Poor Settings

Wilmshurst

2013

Future Neurol.

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The diagnosis of a peripheral neuropathy in a child who resides in the majority of resource-poor settings is based on the history taken and the clinical examination. The majority of children, unless they demonstrate additional clinical markers, will lack a more definitive diagnosis beyond the label ‘peripheral neuropathy’. The treatable, typically acquired conditions, which are prevalent in these settings, are the priority to identify. This would include neuroinfections, neuroinflammation, toxins and vitamin deficiencies. The management of children with peripheral neuropathies in resource-poor settings must be approached in a different manner to that of more ‘resource-equipped’ settings. Secondary or tertiary centers are scarce, often significant distances away from the patient, and this leads to long delays before access is possible. Most children present to primary healthcare settings and are seen by practitioners with little training in the features suggestive of a peripheral neuropathy. As such, basic aids to assist the healthcare worker in the early recognition and interventions of a child with a peripheral neuropathy are important. In addition, there must be recognition of the child with a rapidly progressive neuropathy where a life-threatening condition is present, and urgent referral to a tertiary setting made wherever possible.

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“…The term was initially used to describe a clinical phenotype characterized by symptom onset in the first two years of life, delayed motor development, hypotonia, and extremely slow nerve conduction (median motor nerve conduction velocity, MNCV, of 12 m/s or less; Gabreels‐Festen, 2002; Ouvrier, McLeod, & Conchin, 1987; Yiu & Ryan, 2012). Other common clinical features include areflexia, muscle wasting and weakness, foot deformity, and sometimes enlarged nerves on clinical examination (Ouvrier et al., 1987).…”

Section: Introductionmentioning

confidence: 99%

“…The terminology used for the early‐onset demyelinating neuropathies can be unclear. The clinical and neurophysiologic phenotype of DSD includes forms of Charcot–Marie–Tooth disease (CMT) types 3 and 4 (Yiu & Ryan, 2012). Dominant de novo mutations in peripheral myelin protein 22 ( PMP22 ; Roa, Dyck, Marks, Chance, & Lupski, 1993), myelin protein zero ( MPZ ; Hayasaka et al., 1993; Warner et al., 1998) or early growth response 2 ( EGR2 ) are the most common causes of DSD.…”

Section: Introductionmentioning

confidence: 99%

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

et al. 2018

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IntroductionThe nerve sonographic features of Dejerine‐Sottas disease (DSD) have not previously been described.MethodsThis exploratory cross‐sectional, matched, case–control study investigated differences in nerve cross‐sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot–Marie–Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with DSD, controls, and CMT1A was determined individually and within each group.ResultsFive children with DSD and five age‐ and sex‐matched controls were enrolled. Data from five age‐matched children with CMT1A was also included. Group comparison showed no mean difference in nerve CSA between children with DSD and controls. Individual analysis of each DSD patient with their matched control indicated an increase in nerve CSA in three of the five children. The largest increase was observed in a child with a heterozygous PMP22 point mutation (nerve CSA fivefold larger than a control and twofold larger than a child with CMT1A). Nerve CSA was moderately increased in two children—one with a heterozygous mutation in MPZ and the other of unknown genetic etiology.ConclusionsChanges in nerve CSA on ultrasonography in children with DSD differ according to the underlying genetic etiology, confirming the variation in underlying pathobiologic processes and downstream morphological abnormalities of DSD subtypes. Nerve ultrasound may assist in the clinical phenotyping of DSD and act as an adjunct to known distinctive clinical and neurophysiologic findings of DSD subtypes. Larger studies in DSD cohorts are required to confirm these findings.

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Demyelinating prenatal and infantile developmental neuropathies

Cited by 14 publications

References 191 publications

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family.

Diagnosis and Management of Pediatric Peripheral Neuropathies In Resource-Poor Settings

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

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