Inherited Neuropathies

Carroll, Antonia S; Burns, Joshua; Nicholson, Garth A.; Kiernan, Matthew C.; Vucic, Steve

doi:10.1055/s-0039-1693006

Cited by 10 publications

(23 citation statements)

References 152 publications

(249 reference statements)

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“…CMT1B: In demyelinating CMT1B, due to mutations in Myelin Protein Zero (MPZ), the median and vagus nerve CSAs were enlarged compared to normal individuals[ 156 ]. However, across the spectrum of CMT caused by mutations in MPZ, which can cause a demyelinating (CMT1B), axonal (CMT2I/2J) or intermediate (CMTDID) phenotype[ 157 ], the CSA of only the demyelinating subgroup was found to be enlarged in the median and ulnar nerves, in particular at proximal nerve sites[ 158 ]. Similarly the C5 nerve root CSA was enlarged in both the demyelinating and intermediate groups[ 158 ].…”

Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

“…CMT1X: CMT1X, the second most common form of CMT, is an X-linked intermediate CMT associated with mutations in gap junction-associated protein B1[ 157 ]. Initial reports, which evaluated median nerves to the mid forearm, did not find any significant differences between median nerve CSA and fascicle diameters in CMTX cohorts and healthy controls[ 27 , 150 ].…”

Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

“…CMT2: CMT2 is a heterogenous group, with axonal neurophysiology, comprising of both autosomal dominant and recessive mutations in over 52 genes[ 157 ]. Axonal neuropathies are typically characterised by NMUS as having reduced or normal nerve dimensions, thought secondary to progressive axonal drop out[ 15 ].…”

Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

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Current and future applications of ultrasound imaging in peripheral nerve disorders

Carroll¹,

Simon²

2020

WJR

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Neuromuscular ultrasound (NMUS) is a rapidly evolving technique used in neuromuscular medicine to provide complimentary information to standard electrodiagnostic studies. NMUS provides a dynamic, real time assessment of anatomy which can alter both diagnostic and management pathways in peripheral nerve disorders. This review describes the current and future techniques used in NMUS and details the applications and developments in the diagnosis and monitoring of compressive, hereditary, immune-mediated and axonal peripheral nerve disorders, and motor neuron diseases. Technological advances have allowed the increased utilisation of ultrasound for management of peripheral nerve disorders; however, several practical considerations need to be taken into account to facilitate the widespread uptake of this technique.

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Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

Section: Us Appearances In Peripheral Nerve Disordersmentioning

confidence: 99%

See 1 more Smart Citation

Current and future applications of ultrasound imaging in peripheral nerve disorders

Carroll¹,

Simon²

2020

WJR

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“…For with oligogenic inheritance [10]. Additionally, NGS has a cost-depth trade-off [10], that is, it can screen a small number of genes with good read depth or a large number with less depth [10]. length-dependent, sensory-motor axonopathy [13].…”

mentioning

confidence: 99%

“…Overview of orphan, complex hereditary neuropathieswith high variability between regions of investigation. According to a study from the UK, >90% of the CMTs are due to mutations in these four genes[10].These include HNPP, GAN, hereditary plexopathy, and the hereditary SFNs. With the exception of HNPP, which is due to duplications/deletions in PMP22 these neuropathies are very rare.Neuropathy may be also a feature in non-classified1133SCAs, such as those due to mutations in SETX[111].RFC1 was discovered as the cause of CANVAS [128].…”

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confidence: 99%

Orphan Peripheral Neuropathies

Finsterer

Löscher

Wanschitz

et al. 2021

JND

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Objectives: Generally, neuropathies of peripheral nerves are a frequent condition (prevalence 2–3%) and most frequently due to alcoholism, diabetes, renal insufficiency, malignancy, toxins, or drugs. However, the vast majority of neuropathies has orphan status. This review focuses on the etiology, frequency, diagnosis, and treatment of orphan neuropathies. Methods: Literature review Results: Rareness of diseases is not uniformly defined but in the US an orphan disease is diagnosed if the prevalence is <1:200000, in Europe if <5:10000. Most acquired and hereditary neuropathies are orphan diseases. Often the causative variant has been reported only in a single patient or family, particularly the ones that are newly detected (e.g. SEPT9, SORD). Among the complex neuropathies (hereditary multisystem disorders with concomitant neuropathies) orphan forms have been reported among mitochondrial disorders (e.g. NARP, MNGIE, SANDO), spinocerebellar ataxias (e,g, TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage disease (e.g. Schindler disease), peroxisomal disorders, porphyrias, and other types (e.g. giant axonal neuropathy, Tangier disease). Orphan acquired neuropathies include the metabolic neuropathies (e.g. vitamin-B1, folic acid), toxic neuropathies (e.g. copper, lithium, lead, arsenic, thallium, mercury), infectious neuropathies, immune-mediated (e.g. Bruns-Garland syndrome), and neoplastic/paraneoplastic neuropathies. Conclusions: Though orphan neuropathies are rare per definition they constitute the majority of neuropathies and should be considered as some of them are easy to identify and potentially treatable, as clarification of the underlying cause may contribute to the knowledge about etiology and pathophysiology of these conditions, and as the true prevalence may become obvious only if all ever diagnosed cases are reported.

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Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study

2021

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Introduction/Aims: Advanced genetic testing including next-generation sequencing (AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for the Charcot-Marie-Tooth neuropathies and other hereditary neuropathies (CMT/HN). Herein, we report AGT/NGS results, clinical findings, and diagnostic yield in a cohort of CMT/HN patients evaluated at our neuropathy care center.Methods: We reviewed the medical records of all patients with suspected CMT/HN who underwent AGT/NGS at the Hospital for Special Care from January 2017 through January 2020. Patients with variants reported as pathogenic or likely pathogenic were included for further clinical review. Results:We ordered AGT/NGS on 108 patients with suspected CMT/HN. Of these, pathogenic or likely pathogenic variants were identified in 17 patients (diagnostic yield, 15.7%), including 6 (35%) with PMP22 duplications; 3 (18%) with MPZ variants; 2 (12%) with MFN2 variants; and 1 each with NEFL, IGHMBP2, GJB1, BSCL2, DNM2, and TTR variants. Diagnostic yield increased to 31.0% for patients with a positive family history.Discussion: AGT/NGS panels can provide specific genetic diagnoses for a subset of patients with CMT/HN disorders, which improves disease and genetic counseling and prepares patients for disease-focused therapies. Despite these advancements, many patients with known or suspected CMT/HN disorders remain without a specific genetic diagnosis. Continued advancements in genetic testing, such as multiomic technology and better understanding of genotype-phenotype correlation, will further improve detection rates for patients with suspected CMT/HN disorders.

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Inherited Neuropathies

Cited by 10 publications

References 152 publications

Current and future applications of ultrasound imaging in peripheral nerve disorders

Current and future applications of ultrasound imaging in peripheral nerve disorders

Orphan Peripheral Neuropathies

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study

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