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Polyneuropathy in neurofibromatosis 2

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Polyneuropathy in neurofibromatosis 2 : clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. / Hagel, Christian; Lindenau, Matthias; Lamszus, Katrin; Kluwe, Lan; Stavrou, Dimitrios; Mautner, Victor-Felix.

In: ACTA NEUROPATHOL, Vol. 104, No. 2, 08.2002, p. 179-87.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hagel, C, Lindenau, M, Lamszus, K, Kluwe, L, Stavrou, D & Mautner, V-F 2002, 'Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens', ACTA NEUROPATHOL, vol. 104, no. 2, pp. 179-87. https://doi.org/10.1007/s00401-002-0535-7

APA

Hagel, C., Lindenau, M., Lamszus, K., Kluwe, L., Stavrou, D., & Mautner, V-F. (2002). Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. ACTA NEUROPATHOL, 104(2), 179-87. https://doi.org/10.1007/s00401-002-0535-7

Vancouver

Hagel C, Lindenau M, Lamszus K, Kluwe L, Stavrou D, Mautner V-F. Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. ACTA NEUROPATHOL. 2002 Aug;104(2):179-87. https://doi.org/10.1007/s00401-002-0535-7

Bibtex

@article{570d5906bfc7485aa8bf31fce6155f13,
title = "Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens",
abstract = "Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells.",
keywords = "Adolescent, Adult, Biopsy, Child, Codon, Nonsense/genetics, Frameshift Mutation/genetics, Humans, Microscopy, Electron, Neurofibromatosis 2/genetics, Peripheral Nerves/pathology, Polyneuropathies/genetics, RNA Splicing/genetics, Schwann Cells/pathology, Sural Nerve/pathology",
author = "Christian Hagel and Matthias Lindenau and Katrin Lamszus and Lan Kluwe and Dimitrios Stavrou and Victor-Felix Mautner",
year = "2002",
month = aug,
doi = "10.1007/s00401-002-0535-7",
language = "English",
volume = "104",
pages = "179--87",
journal = "ACTA NEUROPATHOL",
issn = "0001-6322",
publisher = "Springer",
number = "2",

}

RIS

TY - JOUR

T1 - Polyneuropathy in neurofibromatosis 2

T2 - clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens

AU - Hagel, Christian

AU - Lindenau, Matthias

AU - Lamszus, Katrin

AU - Kluwe, Lan

AU - Stavrou, Dimitrios

AU - Mautner, Victor-Felix

PY - 2002/8

Y1 - 2002/8

N2 - Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells.

AB - Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells.

KW - Adolescent

KW - Adult

KW - Biopsy

KW - Child

KW - Codon, Nonsense/genetics

KW - Frameshift Mutation/genetics

KW - Humans

KW - Microscopy, Electron

KW - Neurofibromatosis 2/genetics

KW - Peripheral Nerves/pathology

KW - Polyneuropathies/genetics

KW - RNA Splicing/genetics

KW - Schwann Cells/pathology

KW - Sural Nerve/pathology

U2 - 10.1007/s00401-002-0535-7

DO - 10.1007/s00401-002-0535-7

M3 - SCORING: Journal article

C2 - 12111361

VL - 104

SP - 179

EP - 187

JO - ACTA NEUROPATHOL

JF - ACTA NEUROPATHOL

SN - 0001-6322

IS - 2

ER -