char = L;code = 76 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = -;code = 45 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = a;code = 97 char = m;code = 109 char = y;code = 121 char = l;code = 108 char = o;code = 111 char = i;code = 105 char = d;code = 100 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = l;code = 108 char = y;code = 121 char = n;code = 110 char = e;code = 101 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = h;code = 104 char = y;code = 121 char = ;code = 32 char = (;code = 40 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = );code = 41 char = ;code = 32 char = V;code = 86 char = a;code = 97 char = l;code = 108 char = 3;code = 51 char = 0;code = 48 char = M;code = 77 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = o;code = 111 char = u;code = 117 char = t;code = 116 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = h;code = 104 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = o;code = 111 char = r;code = 114 char = y;code = 121 char = .;code = 46 result sql = Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.
Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.char = F;code = 70 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = a;code = 97 char = m;code = 109 char = y;code = 121 char = l;code = 108 char = o;code = 111 char = i;code = 105 char = d;code = 100 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = l;code = 108 char = y;code = 121 char = n;code = 110 char = e;code = 101 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = h;code = 104 char = y;code = 121 char = ;code = 32 char = (;code = 40 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = );code = 41 char = ;code = 32 char = i;code = 105 char = s;code = 115 char = ;code = 32 char = r;code = 114 char = a;code = 97 char = r;code = 114 char = e;code = 101 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = m;code = 109 char = o;code = 111 char = s;code = 115 char = t;code = 116 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = m;code = 109 char = m;code = 109 char = o;code = 111 char = n;code = 110 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = c;code = 99 char = a;code = 97 char = u;code = 117 char = s;code = 115 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = b;code = 98 char = y;code = 121 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = V;code = 86 char = a;code = 97 char = l;code = 108 char = 3;code = 51 char = 0;code = 48 char = M;code = 77 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = t;code = 116 char = r;code = 114 char = a;code = 97 char = n;code = 110 char = s;code = 115 char = t;code = 116 char = h;code = 104 char = y;code = 121 char = r;code = 114 char = e;code = 101 char = t;code = 116 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = (;code = 40 char = T;code = 84 char = T;code = 84 char = R;code = 82 char = );code = 41 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = .;code = 46 char = ;code = 32 char = B;code = 66 char = e;code = 101 char = s;code = 115 char = i;code = 105 char = d;code = 100 char = e;code = 101 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = l;code = 108 char = y;code = 121 char = n;code = 110 char = e;code = 101 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = h;code = 104 char = y;code = 121 char = ,;code = 44 char = ;code = 32 char = o;code = 111 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = m;code = 109 char = p;code = 112 char = l;code = 108 char = i;code = 105 char = c;code = 99 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = d;code = 100 char = u;code = 117 char = e;code = 101 char = ;code = 32 char = t;code = 116 char = o;code = 111 char = ;code = 32 char = a;code = 97 char = m;code = 109 char = y;code = 121 char = l;code = 108 char = o;code = 111 char = i;code = 105 char = d;code = 100 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = p;code = 112 char = o;code = 111 char = s;code = 115 char = i;code = 105 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = c;code = 99 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = ,;code = 44 char = ;code = 32 char = b;code = 98 char = u;code = 117 char = t;code = 116 char = ;code = 32 char = m;code = 109 char = a;code = 97 char = y;code = 121 char = ;code = 32 char = v;code = 118 char = a;code = 97 char = r;code = 114 char = y;code = 121 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = p;code = 112 char = h;code = 104 char = e;code = 101 char = n;code = 110 char = o;code = 111 char = t;code = 116 char = y;code = 121 char = p;code = 112 char = e;code = 101 char = .;code = 46 char = ;code = 32 char = T;code = 84 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = e;code = 101 char = n;code = 110 char = d;code = 100 char = s;code = 115 char = ;code = 32 char = t;code = 116 char = o;code = 111 char = ;code = 32 char = o;code = 111 char = c;code = 99 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = e;code = 101 char = n;code = 110 char = d;code = 100 char = e;code = 101 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = c;code = 99 char = l;code = 108 char = u;code = 117 char = s;code = 115 char = t;code = 116 char = e;code = 101 char = r;code = 114 char = s;code = 115 char = .;code = 46 char = ;code = 32 char = W;code = 87 char = e;code = 101 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = s;code = 115 char = c;code = 99 char = r;code = 114 char = i;code = 105 char = b;code = 98 char = e;code = 101 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = 6;code = 54 char = 5;code = 53 char = -;code = 45 char = y;code = 121 char = e;code = 101 char = a;code = 97 char = r;code = 114 char = -;code = 45 char = o;code = 111 char = l;code = 108 char = d;code = 100 char = ;code = 32 char = m;code = 109 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = f;code = 102 char = r;code = 114 char = o;code = 111 char = m;code = 109 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = n;code = 110 char = o;code = 111 char = n;code = 110 char = -;code = 45 char = e;code = 101 char = n;code = 110 char = d;code = 100 char = e;code = 101 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = V;code = 86 char = a;code = 97 char = l;code = 108 char = 3;code = 51 char = 0;code = 48 char = M;code = 77 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = a;code = 97 char = r;code = 114 char = e;code = 101 char = a;code = 97 char = ;code = 32 char = w;code = 119 char = h;code = 104 char = o;code = 111 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = v;code = 118 char = e;code = 101 char = l;code = 108 char = o;code = 111 char = p;code = 112 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = p;code = 112 char = r;code = 114 char = o;code = 111 char = g;code = 103 char = r;code = 114 char = e;code = 101 char = s;code = 115 char = s;code = 115 char = i;code = 105 char = v;code = 118 char = e;code = 101 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = r;code = 114 char = a;code = 97 char = l;code = 108 char = i;code = 105 char = z;code = 122 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = i;code = 105 char = n;code = 110 char = l;code = 108 char = e;code = 101 char = s;code = 115 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = x;code = 120 char = o;code = 111 char = n;code = 110 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = s;code = 115 char = e;code = 101 char = n;code = 110 char = s;code = 115 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = m;code = 109 char = o;code = 111 char = t;code = 116 char = o;code = 111 char = r;code = 114 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = l;code = 108 char = y;code = 121 char = n;code = 110 char = e;code = 101 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = h;code = 104 char = y;code = 121 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = ;code = 32 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = d;code = 100 char = ;code = 32 char = a;code = 97 char = u;code = 117 char = t;code = 116 char = o;code = 111 char = n;code = 110 char = o;code = 111 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = v;code = 118 char = o;code = 111 char = l;code = 108 char = v;code = 118 char = e;code = 101 char = m;code = 109 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = a;code = 97 char = b;code = 98 char = s;code = 115 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = ;code = 32 char = s;code = 115 char = y;code = 121 char = m;code = 109 char = p;code = 112 char = t;code = 116 char = o;code = 111 char = m;code = 109 char = s;code = 115 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = .;code = 46 char = ;code = 32 char = N;code = 78 char = e;code = 101 char = r;code = 114 char = v;code = 118 char = e;code = 101 char = ;code = 32 char = b;code = 98 char = i;code = 105 char = o;code = 111 char = p;code = 112 char = s;code = 115 char = y;code = 121 char = ;code = 32 char = s;code = 115 char = h;code = 104 char = o;code = 111 char = w;code = 119 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = a;code = 97 char = m;code = 109 char = y;code = 121 char = l;code = 108 char = o;code = 111 char = i;code = 105 char = d;code = 100 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = p;code = 112 char = o;code = 111 char = s;code = 115 char = i;code = 105 char = t;code = 116 char = s;code = 115 char = ,;code = 44 char = ;code = 32 char = s;code = 115 char = t;code = 116 char = a;code = 97 char = i;code = 105 char = n;code = 110 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = ;code = 32 char = T;code = 84 char = T;code = 84 char = R;code = 82 char = -;code = 45 char = a;code = 97 char = n;code = 110 char = t;code = 116 char = i;code = 105 char = b;code = 98 char = o;code = 111 char = d;code = 100 char = i;code = 105 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = i;code = 105 char = m;code = 109 char = m;code = 109 char = u;code = 117 char = n;code = 110 char = o;code = 111 char = h;code = 104 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = o;code = 111 char = c;code = 99 char = h;code = 104 char = e;code = 101 char = m;code = 109 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = r;code = 114 char = y;code = 121 char = .;code = 46 char = ;code = 32 char = A;code = 65 char = f;code = 102 char = t;code = 116 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = D;code = 68 char = N;code = 78 char = A;code = 65 char = -;code = 45 char = s;code = 115 char = e;code = 101 char = q;code = 113 char = u;code = 117 char = e;code = 101 char = n;code = 110 char = c;code = 99 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = T;code = 84 char = T;code = 84 char = R;code = 82 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = ,;code = 44 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = a;code = 97 char = g;code = 103 char = n;code = 110 char = o;code = 111 char = s;code = 115 char = i;code = 105 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = ;code = 32 char = V;code = 86 char = a;code = 97 char = l;code = 108 char = 3;code = 51 char = 0;code = 48 char = M;code = 77 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = w;code = 119 char = a;code = 97 char = s;code = 115 char = ;code = 32 char = m;code = 109 char = a;code = 97 char = d;code = 100 char = e;code = 101 char = .;code = 46 char = ;code = 32 char = L;code = 76 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = -;code = 45 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = F;code = 70 char = A;code = 65 char = P;code = 80 char = ;code = 32 char = V;code = 86 char = a;code = 97 char = l;code = 108 char = 3;code = 51 char = 0;code = 48 char = M;code = 77 char = e;code = 101 char = t;code = 116 char = ;code = 32 char = i;code = 105 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = p;code = 112 char = r;code = 114 char = o;code = 111 char = g;code = 103 char = r;code = 114 char = e;code = 101 char = s;code = 115 char = s;code = 115 char = i;code = 105 char = v;code = 118 char = e;code = 101 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = t;code = 116 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = s;code = 115 char = o;code = 111 char = r;code = 114 char = d;code = 100 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = ;code = 32 char = v;code = 118 char = a;code = 97 char = r;code = 114 char = y;code = 121 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = p;code = 112 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = t;code = 116 char = r;code = 114 char = a;code = 97 char = n;code = 110 char = c;code = 99 char = e;code = 101 char = ,;code = 44 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = m;code = 109 char = a;code = 97 char = y;code = 121 char = ;code = 32 char = o;code = 111 char = c;code = 99 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = n;code = 110 char = o;code = 111 char = n;code = 110 char = -;code = 45 char = e;code = 101 char = n;code = 110 char = d;code = 100 char = e;code = 101 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = a;code = 97 char = r;code = 114 char = e;code = 101 char = a;code = 97 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = c;code = 99 char = a;code = 97 char = s;code = 115 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = o;code = 111 char = u;code = 117 char = t;code = 116 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = h;code = 104 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = o;code = 111 char = r;code = 114 char = y;code = 121 char = .;code = 46 char = <;code = 60 char = b;code = 98 char = r;code = 114 char = /;code = 47 char = >;code = 62 result sql = Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other complications due to amyloid deposits occur, but may vary in phenotype. The mutation tends to occur in endemic clusters. We describe a 65-year-old man from a non-endemic FAPVal30Met area who developed a progressive generalized painless axonal sensorimotor polyneuropathy with mild autonomic involvement and absent FAP symptoms in the family. Nerve biopsy showed amyloid deposits, staining with TTR-antibodies on immunohistochemistry. After DNA-sequencing of the TTR gene, the diagnosis of FAP Val30Met was made. Late-onset FAP Val30Met is a progressive and fatal disorder with varying penetrance, and may occur in non-endemic areas and cases without a family history.
Publication: Clin Med Res 2008 Sep ;6(2)::80-2. :doi: 10.3121/cmr.2008.794.
Publication Date: 2008 Sep
Study Author(s): Rudolph, Thomas;Kurz, Martin Wilhelm;Farbu, Elisabeth;
Institution: Department of Neurology, Stavanger University Hospital, Postboks 8100, 4068 Stavanger, Norway.
[email protected]
Shortcut link to this study:
Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other complications due to amyloid deposits occur, but may vary in phenotype. The mutation tends to occur in endemic clusters. We describe a 65-year-old man from a non-endemic FAPVal30Met area who developed a progressive generalized painless axonal sensorimotor polyneuropathy with mild autonomic involvement and absent FAP symptoms in the family. Nerve biopsy showed amyloid deposits, staining with TTR-antibodies on immunohistochemistry. After DNA-sequencing of the TTR gene, the diagnosis of FAP Val30Met was made. Late-onset FAP Val30Met is a progressive and fatal disorder with varying penetrance, and may occur in non-endemic areas and cases without a family history.
PMID: 18606975