Abstract
The clinical approach to hereditary neuropathies of adulthood has become very complex. The following issues are reviewed: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. It is useful to identify different phenotypes according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth (CMT) disease, familial amyloid polyneuropathy (FAP), hereditary sensory and autonomic neuropathy, Fabry disease, Tangier disease, porphyric neuropathies, Refsum disease, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary neuralgic amyotrophy and other rare disorders involving the peripheral nervous system are reviewed.
| Original language | Italian |
|---|---|
| Pages (from-to) | 301-317 |
| Number of pages | 17 |
| Journal | Minerva Medica |
| Volume | 94 |
| Issue number | 5 |
| Publication status | Published - Oct 2003 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Diagnosi delle neuropatie ereditarie nell'adulto. / Pareyson, D.
In: Minerva Medica, Vol. 94, No. 5, 10.2003, p. 301-317.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Diagnosi delle neuropatie ereditarie nell'adulto
AU - Pareyson, D.
PY - 2003/10
Y1 - 2003/10
N2 - The clinical approach to hereditary neuropathies of adulthood has become very complex. The following issues are reviewed: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. It is useful to identify different phenotypes according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth (CMT) disease, familial amyloid polyneuropathy (FAP), hereditary sensory and autonomic neuropathy, Fabry disease, Tangier disease, porphyric neuropathies, Refsum disease, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary neuralgic amyotrophy and other rare disorders involving the peripheral nervous system are reviewed.
AB - The clinical approach to hereditary neuropathies of adulthood has become very complex. The following issues are reviewed: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. It is useful to identify different phenotypes according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth (CMT) disease, familial amyloid polyneuropathy (FAP), hereditary sensory and autonomic neuropathy, Fabry disease, Tangier disease, porphyric neuropathies, Refsum disease, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary neuralgic amyotrophy and other rare disorders involving the peripheral nervous system are reviewed.
KW - Hereditary motor and sensory neuropathies, classification
KW - Hereditary motor and sensory neuropathies, diagnosis
KW - Hereditary motor and sensory neuropathies, genetics
UR - http://www.scopus.com/inward/record.url?scp=1242336992&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=1242336992&partnerID=8YFLogxK
M3 - Articolo
C2 - 14973425
AN - SCOPUS:1242336992
VL - 94
SP - 301
EP - 317
JO - Minerva Medicolegale e Archivio di Antropologia Criminale
JF - Minerva Medicolegale e Archivio di Antropologia Criminale
SN - 0026-4806
IS - 5
ER -