Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous

Kuhlenbäumer, Gregor; Meuleman, J.; Jonghe, Peter De; Falck, Björn; Young, Peter; Hünermund, G.; Broeckhoven, Christine Van; Timmerman,; Stögbauer, Florian

doi:10.1046/j.1529-8027.2002.02011_14.x

Cited by 4 publications

(4 citation statements)

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“…To date, the gene for HNA in five pedigrees has been shown to be unlinked to markers in the 17q25.3 region. 17,18,22 In some cases, HNA pedigrees are not large enough to confirm or exclude chromosome 17q25.3 linkage. Fourth, the potential for phenocopies may exist, with familial clustering of similar, but distinct multifocal, painful neuropathies that may be caused by peripheral nerve vasculitis, an example of which can be seen in proximal diabetic neuropathy or diabetic amyotrophy.…”

Section: Methods Clinical Evaluations a Diagnosis Of Hnamentioning

confidence: 99%

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

et al. 2009

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We provide further evidence that mutation of the SEPT9 gene is the molecular basis of some cases of hereditary neuralgic amyotrophy (HNA). DNA sequencing of SEPT9 demonstrates a restricted set of mutations in this cohort of HNA pedigrees. Nonetheless, sequence analysis will have an important role in mutation detection in HNA. Additional techniques will be required to find SEPT9 mutations in an HNA founder haplotype and other pedigrees.

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Section: Methods Clinical Evaluations a Diagnosis Of Hnamentioning

confidence: 99%

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

et al. 2009

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“…The pathophysiological mechanism of NA is unclear, but is currently thought to be an interaction between infection, repetitive or strenuous motor, and individual genetic susceptibility [1,6]. The latest research shows that sEPT9 gene is the pathogenic gene in some hereditary NA families [7]. Intraoperative exploration in a patient with NA reveal marked moderate in ammation of the nerves.…”

Section: Discussionmentioning

confidence: 99%

Role of magnetic resonance neurography in diagnosing neuralgic amyotrophy

Duan

Zhao

Liu

et al. 2023

Preprint

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Background To study the characteristics of brachial plexus MRN in patients with NA, and to explore the clinical application value of MRN combined with Electromyography (EMG) in the diagnosis of NA. Methods The brachial plexus MRN images of 32 patients with NA were retrospectively analyzed and their characteristics were investigated. The accuracy, sensitivity and specificity of MRN, EMG and the combination of the two methods in the diagnosis of NA were compared. Results The main feature of MRN in patients with NA was that it was mostly located in the unilateral upper trunk, and the C5 nerve root was the most common. The main features of those involved nerves were the thickening and segmental stenosis of some involved nerves, and the signal intensity on the 3D reconstruction image was higher than that of the surrounding normal nerves. The diagnostic accuracy, sensitivity and specificity of MRN for NA were higher than those of EMG. Combining MRN and EMG could improve the sensitivity and specificity of diagnosis. Conclusion MRN can visualize the morphological changes of involved nerves in patients with NA. The combined diagnosis of MRN and EMG can help clinicians diagnose NA more accurately.

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“…However, complete recovery varies 24 . Recurrence happens in up to 26% patients, and new episodes occur most frequently within the 6-year follow-up period 25 .…”

Section: Discussionmentioning

confidence: 99%

Parsonage-Turner Syndrome in a 9-Year-Old Boy

Donadeu Sánchez,

Arvinius,

Fernandez Fernandez-Arroyo

et al. 2023

JBJS Journal of Orthopaedics for Physician Assistants

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We present the case of a 9-year-old boy who presented to the emergency department with acute shoulder pain that progressed to right arm radialis paralysis. After a magnetic resonance imaging, he was diagnosed with Parsonage-Turner syndrome and treated accordingly. Parsonage-Turner syndrome (PTS) is an uncommon disorder in children. Only case reports or small series have being published around this topic in the pediatric population. Sudden pain with loss of strength on the upper extremities after a viral infection should make physicians include PTS in the diagnosis. Current treatment includes pain relief and physiotherapy, to regain as much function as possible.

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Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous

Cited by 4 publications

References 0 publications

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

Role of magnetic resonance neurography in diagnosing neuralgic amyotrophy

Parsonage-Turner Syndrome in a 9-Year-Old Boy

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