Hearing loss as the first feature of late-onset axonal CMT disease due to a novel
            <i>P0</i>
            mutation

Seeman, Pavel; Mazanec, Radim; Huehne, Kathrin; Šušlíková, P.; Keller, O; Rautenstrauss, Bernd

doi:10.1212/01.wnl.0000134605.61307.de

Cited by 31 publications

(26 citation statements)

References 7 publications

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“…The manifestation of progressive sensorineural hearing loss and abnormal pupillary reaction may indicate that the mutation in MPZ results in an abnormality of cranial nerves in combination with and abnormality in other peripheral nerves (Seeman et al, 2004). Starr et al (2003) found that both the sural and …”

Section: Discussionmentioning

confidence: 99%

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Leal

Berghoff

et al. 2014

RBT

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The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4): 1285-1293. Epub 2014 December 01. Key words:Charcot-Marie-Tooth, peripheral neuropathy, Myelin protein zero, mutation, Costa Rica.Hereditary motor and sensory neuropathy (HMSN), also called Charcot-Marie-Tooth disease (CMT), is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. It is characterized by progressive muscular weakness and atrophy of the distal muscles (Lupski, 1998). By means of electrophysiological and morphological studies, CMT can be divided into two major forms: a predominantly demyelinating (HMSN type I) and an axonal form (HMSN type II) (Dyck, Chance, Lebo, & Carney, 1993).MPZ had been initially related with a hereditary motor and sensorial neuropathy type I (HMSN I), presenting myelin disturbances resulting in reduced nerve conduction velocity (NCV<38m/s) (Hayasaka et al., 1993a). However, families with normal NCV values (HMSN II) have also been associated with MPZ (Senderek et al., 2000). The mutation Thr124Met in the third exon of the protein was found to be responsible for CMT in families with a clinically distinct phenotype, including axonal involvement, frequently deafness, Argyll Robertson-like pupils and dysphagia (Chapon, Latour, Diraison, Schaeffer, & Vandenberghe, 1999;De Jonghe et al., 1999). This mutation has been found in several CMT families. When the polymorphic markers close to the gene and an intronic polymorphism were analyzed it was associated with the same haplotype as two Belgian families. Due to this, it has been suggested that a common ancestor was the founder of this particular mutation (De Jonghe et al., 1999). Nevertheless, Senderek et al. (2000) reported a family with an identical mutation embedded in a distinct haplotype, thus suggesting the existence of a hot-spot in this codon. Not only Belgian (De Jonghe et al., 1999) families with the mutation p.Thr124Met have been reported, also French (Chapon et al., 1999), German (Senderek et al., 2000;Hanemann et al., 2001), Italian (Schiavon et al., 1998), North American (Baloh, Jen, Kim, & Baloh, 2004 and Japanese Kurihara et al., 2002;Numakura, Lin, Ikegami, Guldberg, & Hayasaka, 2002;Kurihara, 2003).Here we report a ...

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Section: Discussionmentioning

confidence: 99%

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Leal

Berghoff

et al. 2014

RBT

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“…EM revealed normal myelin packing and periodicity whereas occasional myelin sheaths were abnormally thick because of redundant loop formation. Another patient [69] showed profound loss of large myelinated fibers, multiple clusters of regenerated axonal sprouts, and no onion bulb formations.…”

Section: Histopathologymentioning

confidence: 99%

Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2

Schröder

Weis

Senderek

2014

Peripheral Nerve Disorders

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“…Present OAEs are sometimes associated with nonrecordable or highly altered ABRs. Progressive deafness in a MPZ mutation carrier family was the first sign of CMT disease, preceding signs of peripheral neuropathy 1 10 years [Seeman et al, 2004].…”

Section: A Genetically Heterogeneous Example (Dominant Recessive and mentioning

confidence: 99%

Genetic Update on Auditory Neuropathy

Marlin¹,

Jonard²,

Loundon³

et al. 2011

Audiol Neurotol Extra

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Auditory neuropathy (AN) is defined as a sensorineural hearing impairment (HI) characterized by preserved cochlear outer hair cell function with normal otoacoustic emissions but abnormal or absent brainstem evoked potentials. The prevalence of AN in HIs remains to be established and its pathophysiology has not been determined. Several environmental and genetic causes have been identified, but the majority of cases remain unexplained. In the last 10 years, many genes have been identified in isolated and/or syndromic HI. Some of them (OTOF, PJVK, DIAPH3, OPA1, FXN, PMP22, ERCC6, ERCC8, SLC19A2 and TIMM8A, for example) are responsible for phenotypes corresponding to the AN definition. This review will focus on isolated and syndromic forms of AN for which the causative genes have been identified.

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Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

Cited by 31 publications

References 7 publications

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2

Genetic Update on Auditory Neuropathy

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