Abstract
Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with previously unencountered neurofilament accumulations. Neurofilament accumulation indicates that the axon could be a site for primary derangement and may implicate an abnormality of slow axonal flow. In addition, some of the patients exhibited features suggestive of a cardiomyopathy.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 455-461 |
| Number of pages | 7 |
| Journal | Annals of Neurology |
| Volume | 17 |
| Issue number | 5 |
| State | Published - 1985 |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Hereditary motor sensory neuropathy type II with neurofilament accumulation : New finding or new disorder? / Vogel, P.; Gabriel, M.; Goebel, H. H.; Dyck, Peter J.
In: Annals of Neurology, Vol. 17, No. 5, 1985, p. 455-461.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary motor sensory neuropathy type II with neurofilament accumulation
T2 - New finding or new disorder?
AU - Vogel, P.
AU - Gabriel, M.
AU - Goebel, H. H.
AU - Dyck, Peter J
PY - 1985
Y1 - 1985
N2 - Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with previously unencountered neurofilament accumulations. Neurofilament accumulation indicates that the axon could be a site for primary derangement and may implicate an abnormality of slow axonal flow. In addition, some of the patients exhibited features suggestive of a cardiomyopathy.
AB - Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with previously unencountered neurofilament accumulations. Neurofilament accumulation indicates that the axon could be a site for primary derangement and may implicate an abnormality of slow axonal flow. In addition, some of the patients exhibited features suggestive of a cardiomyopathy.
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UR - http://www.scopus.com/inward/citedby.url?scp=0021878488&partnerID=8YFLogxK
M3 - Article
C2 - 3859241
AN - SCOPUS:0021878488
VL - 17
SP - 455
EP - 461
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 5
ER -