Vestibular impairment in Charcot–Marie–Tooth disease

Akdal, Gülden; Koçoğlu, Koray; Tanrıverdizade, Tural; Bora, Elçin; Bademkıran, Fikret; Yüceyar, Ayşe Nur; Ekmekçi, Özgül; Şengün, İhsan Şükrü; Karasoy, Hatice

doi:10.1007/s00415-020-10186-x

Cited by 6 publications

(6 citation statements)

References 12 publications

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“…In a study of Charcot-Marie Tooth (CMT) disease, vestibular impairment was seen in 60–70% of subjects, and it was proffered that cVEMPs may be more sensitive (75%) than the vHIT [15]. The latter was abnormal in 50% of subjects [16].…”

Section: What Do I Do If My Patient Has a Somatosensory Deficit With ...mentioning

confidence: 99%

A patient with neuropathy and ataxia: what do I have to consider?

Roberts,

Szmulewicz

2023

Current Opinion in Neurology

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Purpose of review An increasing number of peripheral neuro(no)pathies are identified as involving other components of the neurological system, particularly those that further impair balance. Here we aim to outline an evidence-based approach to the diagnosis of patients who present with a somatosensory disorder which also involves at least one other area of neurological impairment such as the vestibular, auditory, or cerebellar systems. Recent findings Detailed objective investigation of patients who present with sensory impairment, particularly where the degree of imbalance is greater than would be expected, aids the accurate diagnosis of genetic, autoimmune, metabolic, and toxic neurological disease. Summary Diagnosis and management of complex somatosensory disorders benefit from investigation which extends beyond the presenting sensory impairment.

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Section: What Do I Do If My Patient Has a Somatosensory Deficit With ...mentioning

confidence: 99%

A patient with neuropathy and ataxia: what do I have to consider?

Roberts,

Szmulewicz

2023

Current Opinion in Neurology

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“…22 There are small case series of additional features such as sensorineural hearing deficits 9 and vestibular impairment. 23 Auditory dysfunction may be of particular concern in pediatric patients, given…”

Section: Pediatric Considerationsmentioning

confidence: 99%

“…There are some atypical presentations of CMT1A, such as hypotonia in infants 15 or late-adult–onset CMT1A 22 . There are small case series of additional features such as sensorineural hearing deficits 9 and vestibular impairment 23 . Auditory dysfunction may be of particular concern in pediatric patients, given the potential impact on speech and language development 9,24 .…”

Section: Demyelinating Charcot-marie-tooth Diseasementioning

confidence: 99%

Hereditary Neuropathies

Hayes,

Sadjadi

2023

CONTINUUM: Lifelong Learning in Neurology

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OBJECTIVE This article provides an overview of hereditary neuropathies, describes the different hereditary neuropathy subtypes and the clinical approach to differentiating between them, and summarizes their clinical management. LATEST DEVELOPMENTS Increasingly available clinical genetic testing has broadened the clinical spectrum of hereditary neuropathy subtypes and demonstrated a significant overlap of phenotypes associated with a single gene. New subtypes such as SORD-related neuropathy and CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) have emerged. The optimization of clinical management has improved gait and motor function in the adult and pediatric populations. Novel therapeutic approaches are entering clinical trials. ESSENTIAL POINTS Hereditary neuropathies constitute a spectrum of peripheral nerve disorders with variable degrees of motor and sensory symptoms, patterns of involvement, and clinical courses.

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“…Charcot-Marie-Tooth (CMT) disease is the most common type of hereditary peripheral neuropathy. It is characterized by distal sensory loss, progressive distal muscle weakness, and atrophy [10,11]. Genetic analysis is important for the differential diagnosis of HSP and CMT disease, which clinically overlap in terms of phenotype and pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

Xu¹,

Peng

Zhou

et al. 2021

Case Reports in Genetics

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Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97 ∗ ) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. The patient exhibited the pure SPG4 phenotype with onset during childhood. The SPAST mutation was absent in the parents and paternal relatives. However, the NEFH mutation was identified in five people with no clinical phenotype. Based on theoretical conjecture and the family gene segregation information, we concluded that the SPAST mutation, but not the NEFH mutation, accounted for the proband’s phenotype. Eventually, the woman gave birth to a healthy baby girl with the NEFH mutation. Conclusion. In this report, we identified a missense mutation in the SPAST gene (p.Arg499His) in a 27-year-old pregnant Chinese woman with HSP. We believe that this study expands the knowledge about the clinical parameters and mutation spectrum of SPG4.

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Vestibular impairment in Charcot–Marie–Tooth disease

Cited by 6 publications

References 12 publications

A patient with neuropathy and ataxia: what do I have to consider?

A patient with neuropathy and ataxia: what do I have to consider?

Hereditary Neuropathies

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

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