Developmental and pathological changes at the node and paranode in human sural nerves

Jm, Schröder

doi:10.1002/(sici)1097-0029(19960801)34:5<422::aid-jemt2>3.0.co;2-o

Cited by 18 publications

(12 citation statements)

References 43 publications

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“…Sural nerve biopsies, performed when Patient PN‐44.1 was 40 years of age and when Patient PN‐761.3 was 3 years of age, were analyzed according to standard morphological procedures for light and electron microscopy 13…”

Section: Methodsmentioning

confidence: 99%

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Takashima¹,

Boerkoel²,

Jonghe

et al. 2002

Annals of Neurology

110

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Previous studies have demonstrated that apparent loss-of-function mutations in the periaxin gene cause autosomal recessive Dejerine-Sottas neuropathy or severe demyelinating Charcot-Marie-Tooth disease. In this report, we extend the associated phenotypes with the identification of two additional families with novel periaxin gene mutations (C715X and R82fsX96) and provide detailed neuropathology. Each patient had marked sensory involvement; two siblings with a homozygous C715X mutation had much worse sensory impairment than motor impairment. Despite early disease onset, these siblings with the C715X mutation had relatively slow disease progression and adult motor impairment typical of classic demyelinating Charcot-Marie-Tooth neuropathy. In contrast, a patient with the homozygous R82fsX96 mutation had a disease course consistent with Dejerine-Sottas neuropathy. The neuropathology of patients in both families was remarkable for demyelination, onion bulb and occasional tomacula formation with focal myelin thickening, abnormalities of the paranodal myelin loops, and focal absence of paranodal septate-like junctions between the terminal loops and axon. Our study indicates a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein.

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Section: Methodsmentioning

confidence: 99%

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Takashima¹,

Boerkoel²,

Jonghe

et al. 2002

Annals of Neurology

110

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“…They concluded that the myelin attenuation occurring around axonal spheroids (axonal degeneration) resulted from mechanical slippage of the paranodal myelin . The paranode is the main anchorage point of the myelin lamellae to the axon, and mechanical myelin slippage is a well‐recognized consequence of paranodal pathology …”

Section: Classification Of Rlnmentioning

confidence: 99%

“…53 The paranode is the main anchorage point of the myelin lamellae to the axon, and mechanical myelin slippage is a well-recognized consequence of paranodal pathology. [67][68][69] When sural nerve biopsy specimen from human patients with a demyelinating polyneuropathy were compared to those with a primary axonal polyneuropathy (diagnosed on electrophysiological tests), there There is obvious loss of large myelinated nerve fibers (dotted arrow) in the affected horse (right) compared with the unaffected horse (left), and also note the increased subperineurial space and endoneurial connective tissue present in the section from the affected horse. A Renaut Body is highlighted by a solid black arrow in the normal horse.…”

Section: Tures Common Additional Pathological Changes Affecting the mentioning

confidence: 99%

Pathological classification of equine recurrent laryngeal neuropathy

Draper

Piercy

2018

Veterinary Internal Medicne

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Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle paresis. The associated laryngeal dysfunction and exercise intolerance in athletic horses commonly leads to surgical intervention, retirement or euthanasia with associated financial and welfare implications. Despite speculation, there is a lack of consensus and conflicting evidence supporting the primary classification of RLN, as either a distal (“dying back”) axonopathy or as a primary myelinopathy and as either a (bilateral) mononeuropathy or a polyneuropathy; this uncertainty hinders etiological and pathophysiological research. In this review, we discuss the neuropathological changes and electrophysiological deficits reported in the RLn of affected horses, and the evidence for correct classification of the disorder. In so doing, we summarize and reveal the limitations of much historical research on RLN and propose future directions that might best help identify the etiology and pathophysiology of this enigmatic disorder.

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“…At this site, the nerve has penetrated the fascia, can be relatively easily excised beneath the fatty tissue, and shows the fewest variations concerning number of fascicles and nerve fibres. There are usually 9-16 fascicles and in adults approximately 4,600-14,000 myelinated and 19,000-68,000 unmyelinated nerve fibres per mm 2 , depending on the age of the patient [13,17,32,35,36].…”

Section: Selection Of a Peripheral Nerve For Biopsymentioning

confidence: 99%

“…In borderline cases between pathologic and age-dependent "normal" changes, application of morphometry may be essential. The results of morphometric evaluation of control nerves from different periods of life are available from only a relatively small number of biopsy and autopsy studies (for references see [11,17,28,29,32,36]). …”

Section: Morphometrymentioning

confidence: 99%

Recommendations for the examination of peripheral nerve biopsies

Schröder¹

1998

Virchows Archiv

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Peripheral nerve biopsy is now an established, valuable investigative procedure, but as it can give rise to significant residual symptoms it should only be undertaken after careful consideration of the indications and with informed consent from the patient. Nerve biopsies should only be processed and evaluated in a laboratory with the relevant particular expertise. It is generally recommended that a sural nerve biopsy be performed in combination with a muscle biopsy but not vice versa (muscle biopsies together with a nerve biopsy). Nerve biopsy is not the only means of sampling peripheral nerve tissue to study the peripheral nervous system. Examination of the innervation of the skin may be informative. The same is likely to be true for motor point muscle biopsy. Nerve biopsy is mainly used for morphology although molecular genetic techniques using fresh or archival nerve biopsies are increasingly available. Chemical analysis is undertaken mainly for research purposes.

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Developmental and pathological changes at the node and paranode in human sural nerves

Cited by 18 publications

References 43 publications

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Pathological classification of equine recurrent laryngeal neuropathy

Recommendations for the examination of peripheral nerve biopsies

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