Dejerine–Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

Jen, Joanna C.; Baloh, Robert H.; Ishiyama, Akira; Baloh, Robert W.

doi:10.1016/j.jns.2005.05.003

Cited by 19 publications

(9 citation statements)

References 9 publications

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“…3 Characterizing patients with vertigo and / or dizziness requires information concerning the function of the vestibular end-organs as a whole. While it is known from single case reports that semicircular canal function can be involved in inherited neuropathies, 6,7 to our best knowledge, this is the first study characterizing otolith function. cVEMP were investigated in this study, as vestibulo-spinal pathways are important structures when evaluating balance control.…”

Section: Discussionmentioning

confidence: 95%

“…In fact, involvement of the vestibular nerve in the polyneuropathic process has been shown to occur frequently in patients with non-inherited polyneuropathy [1][2][3][4] and interestingly, sensory neuropathy seems to be an integral part of the just recently characterized syndrome of cerebellar ataxia with bilateral vestibulopathy. 5 In inherited neuropathy, vestibular hypofunction has been, so far, documented only in single case reports, including the description of bilateral vestibular loss in two patients with Dejerine-Sottas syndrome 6 and of vestibular neuropathy in a Roma family with hereditary motor and sensory peripheral neuropathy due to mutations on chromosome 8p24. 7 Given the evidence that vestibular rehabilitation improves postural stability in patients with vestibulopathy, 8 identifying a concomitant vestibular impairment is clinically important.…”

Section: Introductionmentioning

confidence: 99%

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Vestibular impairment in patients with Charcot-Marie-Tooth disease

et al. 2013

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OBJECTIVE: This case-control study aimed to determine whether the imbalance in CharcotMarie-tooth (CMT) disease is caused only by reduced proprioceptive input or whether the involvement of the vestibular nerve is an additional factor. METHODS: Fifteen patients with CMT disease (aged 48 ± 17 years; 8 women) underwent cervical vestibular-evoked myogenic potentials, which reflect otolithspinal reflex function, and quantitative horizontal search-coil head-impulse testing, which assesses the high-acceleration vestibulo-ocular reflex of the semicircular canals. RESULTS: Relative to healthy agematched control subjects, cervical vestibular-evoked myogenic potentials were found to be impaired in 75% of patients (average p13 latency: 23.0 ± 2.7 milliseconds, p = 0.01; average n23 latency: 29.0 ± 1.8 milliseconds, p = 0.01) and the quantitative head-impulse test in 60% of patients (average gain ± 1 SD: 0.67 ± 0.24, p < 0.001). All patients with head-impulse test impairment also showed cervical vestibularevoked myogenic potential abnormalities, while the reverse was not true. CONCLUSIONS: We conclude that the neuropathic process in patients with CMT disease frequently involves the vestibular nerve and that cervical vestibular-evoked myogenic potentials may be more sensitive than quantitative head-impulse testing for detecting vestibular involvement, in particular at an early disease stage.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Vestibular impairment in patients with Charcot-Marie-Tooth disease

et al. 2013

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“…In 6 affected families, an autosomal dominant mode of inheritance was documented for Thr23Arg, Thr28Gln, Val65Phe, Ala67Pro, Leu71Pro and Ala115Thr118del mutations (Boerkoel et al 2002;Joo et al 2004;Huehne et al 2003;Kovach et al 1999;Jen et al 2005;Sambuughin et al 2003). A severe CMT phenotype with hearing impairment was shown to be associated with the Ser76Ile and Ser72Leu mutations detected in sporadic CMT cases (Tyson et al 1997;Ionasescu et al 1996).…”

Section: Discussionmentioning

confidence: 96%

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment

Kabzińska

Sinkiewicz–Darol

Hausmanowa-Pétrusewicz

et al. 2010

J Appl Genet

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Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations.

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“…But, ABR results were markedly affected and indicated significantly increased absolute latency of I, III and V and inter-peak latency of I-III and I-V. Jen et al stated that mutation in PMP22 leads to auditory and vestibular loss [5]. Peripheral myelin covers the cranial nerves except for the root entry zone, so demyelination of the 8 th nerve is the most likely explanation for the audiovestibular loss in their case [5]. In our patient, it seems that demyelination of auditory pathway is higher than vestibular one.…”

Section: Discussionmentioning

confidence: 99%