Epilepsy in patients with Charcot Marie Tooth disease: Phenotypic spectrum or two different diseases?

Abid, Imen; Kamoun, Fatma; Boubaker, Chokri; Delague, Valérie; Triki, Chahnez

doi:10.3233/pep-14085

Cited by 3 publications

(11 citation statements)

References 20 publications

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“…Besides the classic presentation with neuropathy, involvement of CNS has also been reported in clinical phenotypes of patients with CMT disease, including cognitive impairment, pyramidal signs, ataxia, and cerebral white matter abnormalities. 1,2,8,9,14,[19][20][21][22] Particularly for GJB1 disorders, SNC manifestations can appear as fixed abnormalities or acute, self-limited and recurrent episodes of transient neurologic dysfunction (especially upper motor neuron weakness and dysarthria), known as stroke-like episodes, that may occur after a metabolic stress (Abrams, (2001) reported that EEG recordings during these episodes showed moderate diffuse slowing. 14 Only a few reports have described the association between epilepsy and CMT disease.…”

Section: Discussionmentioning

confidence: 99%

“…Charcot-Marie-Tooth (CMT) disease encompasses a variety of inherited neuropathies, affecting 1 in 2500 patients. [1][2][3] It is primarily an autosomal dominant disease, most often caused by a duplication in the peripheral myelin protein-22 gene (PMP22). 4 However, shortly after the first descriptions of CMT, an affected family having X-linked inheritance was reported.…”

Section: Introductionmentioning

confidence: 99%

“…6 Affected males who are hemizygous for the mutation have moderate to severe clinical manifestations, showing onset of symptoms in early childhood, while heterozygous females are usually less affected, with mild clinical signs, probably due to random X-inactivation. 2,7 CMT disease has a marked genetic and phenotypic heterogeneity. 8 It typically affects both motor and sensory peripheral nerves, enclosing demyelinating and axonal forms.…”

Section: Introductionmentioning

confidence: 99%

“…1 Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. 1,2,9,10 The association of CMT disease with epilepsy is rare, and most of the published cases are related to PMP22 gene duplications in CMT1A subtype. Its underlying mechanisms are still unknown.…”

Section: Introductionmentioning

confidence: 99%

“…Its underlying mechanisms are still unknown. 1,2 We describe the case of a patient diagnosed with CMTX affecting GJB1 gene in middle childhood, who also developed generalized epileptic seizures. We aim to contribute to unravel the clinical pleomorphism of CMT disease and specifically delineate the neurological spectrum of GJB1.…”

Section: Introductionmentioning

confidence: 99%

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Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Monteiro¹

2024

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Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy.A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep tendon reflexes. The electromyogram and nerve conduction study revealed a chronic symmetric axonal sensorimotor polyneuropathy. Next generation gene panel sequencing identified a hemizygous variant on GJB1 gene (c.547C>T, p.R183C) consistent with X-linked CMT. At the age of 21, he developed recurrent unprovoked tonic-clonic seizures. An electroencephalogram was consistent with a generalized epilepsy.The association of CMT disease with epilepsy is rare. GJB1 encodes the gap junction protein connexin32, which is expressed primarily in Schwann cells of peripheral nerves but also in oligodendrocytes and certain neuronal populations, possibly explaining the CNS manifestations. ResumoA doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária reconhecida por sua heterogeneidade genética e fenotípica. Embora incomum, também há relatos do envolvimento do sistema nervoso central (SNC), incluindo epilepsia.Homem de 23 anos que aos 8 anos se apresenta com alterações da marcha. Ao exame neurológico apresentava fraqueza muscular distal, atrofia dos quatro membros e hiporreflexia generalizada. O eletromiograma e estudo de condução nervosa revelaram sinais de polineuropatia sensitivo-motora axonal simétrica crónica. O estudo genético identificou uma variante hemizigótica no gene GJB1 (c.547C>T, p.R183C) consistente com CMT ligada ao X. Aos 21 anos, desenvolveu crises tónico--clónicas recorrentes, não provocadas. O eletroencefalograma foi compatível com epilepsia generalizada.A associação da doença CMT com epilepsia é rara. O gene GJB1 codifica a proteína conexina32, que é expressa principalmente nas células de Schwann dos nervos periféricos, mas também nos oligodendrócitos e determinadas populações neuronais, possivelmente explicando as manifestações do SNC.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Monteiro¹

2024

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Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations

Brooks

Porter

Bisordi

et al. 2022

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

Shah,

Sarasua,

Boccuto

et al. 2023

Genes

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Phelan–McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder caused by 22q13 region deletions or SHANK3 gene variants. Deletions vary in size and can affect other genes in addition to SHANK3. PMS is characterized by autism spectrum disorder (ASD), intellectual disability (ID), developmental delays, seizures, speech delay, hypotonia, and minor dysmorphic features. It is challenging to determine individual gene contributions due to variability in deletion sizes and clinical features. We implemented a genomic data mining approach for identifying and prioritizing the candidate genes in the 22q13 region for five phenotypes: ASD, ID, seizures, language impairment, and hypotonia. Weighted gene co-expression networks were constructed using the BrainSpan transcriptome dataset of a human brain. Bioinformatic analyses of the co-expression modules allowed us to select specific candidate genes, including EP300, TCF20, RBX1, XPNPEP3, PMM1, SCO2, BRD1, and SHANK3, for the common neurological phenotypes of PMS. The findings help understand the disease mechanisms and may provide novel therapeutic targets for the precise treatment of PMS.

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Epilepsy in patients with Charcot Marie Tooth disease: Phenotypic spectrum or two different diseases?

Cited by 3 publications

References 20 publications

Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations

Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

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