Objective: To report clinical, pathological and genetic features of familial amyloid polyneuropthy (FAP) associated with TTR Val30Ala mutation in a family in China. Methods: Twenty-seven members from 4 generations of the FAP family were investigated clinically. Two probands underwent sural biopsy and electrophysiological study. The PCR products of all the 4 TTR exons from the family members were analyzed by direct sequencing. Results: The age of onset was between 31 and 36 years. The disease manifested slowly progressing polyneuropathies. The initial symptoms usually included weakness, numbness, paresthesias, and sometimes pain in the feet and lower legs. Extensive autonomic symptoms appeared simultaneously or subsequently. Hypertrophic myocarditis, arrhythmia, orthostatic hypotension and cardiac shock also developed. Cranial nerve involvement (loss of hearing and hoarseness) occurred as a late manifestation in one proband. Nerve conduction velocity could not obtained in electrophysiological examination. Sural nerve biopsy showed amorphous eosinophilic material on HE staining, which appeared positive on cogon red staining in the endoneurium around capillaries. Myelinated fibers were almost diminished. Electron microscopy showed extracellular amyloid fibrillar deposits composed of 7-10 nm wide straight, unbranched fibrils irregularly arranged. DNA analysis of the TTR gene revealed a point mutation T1099C, which was responsible for the substitution of Val for Ala at position 30 of the TTR molecule. Conclusions: This is the first TTR VaBOAla induced FAP in China. The clinical presentations can be classified into FAP type I. Besides peripheral nerve involvement, gastrointestinal, cardiovascular and cranial nerve impairment are also present.