Diagnosis of Hereditary Neuropathies in Adults - from Italy

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ABSTRACT from J Neurol 2003 Feb;250(2):148-60

Diagnosis of hereditary neuropathies in adult patients.

Pareyson D.

Department of Clinical Neurosciences, " C.Besta " National Neurological

Institute, Via Celoria 11, 20133 Milan, Italy. dpareys@... or

dpareys@...

This paper reviews the clinical diagnostic approach to hereditary

neuropathies in adults by analysing: 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. Different phenotypes may be

identified 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

disease, Familial Amyloid Polyneuropathy, Hereditary Sensory and

Autonomic Neuropathy, Fabry disease, Tangier disease, Porphyric

Neuropathies, Refsum

disease, Hereditary Neuropathy with liability to Pressure Palsies,

Hereditary Neuralgic Amyotrophy, and other rare disorders involving the

peripheral nervous system are reviewed.