Late-onset familial amyloid polyneuropathy with the TTR Met 30 mutation in France.
Four unrelated French cases of familial amyloid polyneuropathy are reported. Clinical onset ranged from the sixth to the ninth decade. Sensory signs were predominant initially in the lower limbs; motor changes, and in one case autonomic involvement, appeared later. Amyloid disease was clinically limited to the peripheral nervous system. In two cases, there was no evidence of familial disease. DNA analysis was performed in these four patients and in two children of Patient 1. Restriction analysis of amplification products of exon 2 of the transthyretin gene was positive for the valine 30 to methionine mutation. These four unrelated patients live in different areas of France. Further studies are needed to determine whether these mutations have a common origin and whether they are related to the Portuguese mutation.
Départment de Médecine Interne, Hôpital Cochin, Paris, France.
G
G
Grateau
D
D
Adams
D
D
Malapert
M
M
Viemont
M
M
Delpech
G
G
Said
D000368:Aged; D000369:Aged, 80 and over; D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D004587:Electrophoresis, Agar Gel; D005602:France; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008715:Methionine / Q000737:chemistry; D008875:Middle Aged; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000737:chemistry; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*
D009841:Oligonucleotides; D011228:Prealbumin; D008715:Methionine