Diagnosis of hereditary neuropathies in adult-subjects - research from Italy

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Abstract from Minerva Med. 2003 Oct;94(5):301-17.

(this abstract in English has just become available -includes CMT

Diagnosis of hereditary neuropathies in adult-subjects[Article in

Italian]

Pareyson D.

Istituto Nazionale Neurologico, C. Besta, Milano, Italy.

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.