Mutation type*1 |
Mutation position |
Length of affected nucleotides*2 |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Hereditary Pattern |
Ethnic Origin |
Symptom |
Onset Age |
Reference |
Memo |
LD |
172-100 |
2061 |
|
DelEx3-4 |
3 |
Deletion from exon3 to exon4 |
AR*3 |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early |
Hattori, N. et al. Ann. Neurol. 44, 935 (1998b). |
|
LD |
172-100 |
439 |
|
DelEx3 |
2 |
Deletion of exon3 |
AR |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early |
Hattori, N. et al. Ann. Neurol. 44, 935 (1998b). |
|
LD |
413-100 |
322 |
|
DelEx4 |
3 |
Deletion of exon4 |
AR |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early (18-27 years) |
Kitada, T. et al. Nature 392, 605 (1998). |
|
LD |
535-100 |
284 |
|
DelEx5 |
2 |
Deletion of exon5 |
AR |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early |
Hattori, N. et al. Ann. Neurol. 44, 935 (1998b). |
|
FD |
535-1, 536 |
1 |
|
535delG |
2 |
1-bp del G at nucleotide 535-1,535 or 536 --> frameshift at codon 179 |
AR |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early |
Hattori, N. et al. Ann. Neurol. 44, 935 (1998b). |
|
LD |
172-100 |
6900 |
|
DelEx3-7 |
1 |
Deletion from exon3 to exon7 |
AR |
Japanese |
mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms |
early (in her teens) |
Kitada, T. et al. Nature 392, 605 (1998). |
|
M |
719 |
1 |
G |
T240R |
1 |
ACG-AGG --> Thr-Arg at codon 240 |
AR |
Turkish |
tremor and bradykinesia on the right side |
early (35 years) |
Hattori, N. et al. Biochem. Biophys. Res. Commun. 249, 754 (1998a). |
|
N |
931 |
1 |
T |
Q311X |
1 |
CAG-TAG --> Gln-Stop at codon311 |
AR |
Turkish |
bradykinesia, rigidity and tremor at rest and in posture |
early (13 years) |
Hattori, N. et al. Biochem. Biophys. Res. Commun. 249, 754 (1998a). |
|
LD |
535-100 |
3537 |
|
DelEx5-7 |
1 |
Deletion from exon5 to exon7 |
AR |
Greek |
began with tremor and progressed gradually, with an initial favorable response to the administration of L-dopa |
early (17, 13 years) |
Leroy, E. et al. Hum. Genet. 103, 424 (1998). |
|
P |
1096 |
1 |
T |
1096C/T |
4.40% |
polymorphism at ntd 1096 (Arg/Trp 366) |
- |
Japanese |
- |
- |
Wang, M. et al. Ann. Neurol. 45, 655 (1999). |
non-PD individuals |
P |
1096 |
1 |
T |
1096C/T |
1.20% |
polymorphism at ntd 1096 (Arg/Trp 366) |
sporadic |
Japanese |
- |
- |
Wang, M. et al. Ann. Neurol. 45, 655 (1999). |
PD patients |
P |
1138 |
1 |
C |
1138G/C |
2.70% |
polymorphism at ntd 1138 (Val/Leu 380) |
sporadic |
Japanese |
- |
- |
Wang, M. et al. Ann. Neurol. 45, 655 (1999). |
|
P |
500 |
1 |
A |
500G/A |
43.60% |
polymorphism at ntd 500 (Ser/Asn 167) |
sporadic |
Japanese |
- |
- |
Wang, M. et al. Ann. Neurol. 45, 655 (1999). |
|
FD |
101, one of 102~105 |
2 |
|
101delAG |
1 |
2-bp del of AG at ntd 101-> frameshift at codon 34 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (37, 55 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
FD |
101, one of 102~105 |
2 |
|
101delAG |
1 |
2-bp del of AG at ntd 101-> frameshift at codon 34 |
AR |
British |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (39, 53 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
FD |
154, 155 |
1 |
|
154delA |
2 |
1-bp del A at ntd 154 -> frameshift at codon 52 |
AR |
French |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (33, 44 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
FI |
220 |
0 |
GT |
220insGT |
2 |
2-bp ins GT at ntd 220 -> frameshift at codon 74 |
AR |
French |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (27, 43 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
M |
483 |
1 |
T |
K161N |
1 |
AAA-AAT at ntd 483 -> Lys-Asn at codon 161 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (37, 55 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
P |
500 |
1 |
A |
500G/A |
1% |
polymorphism at ntd 500 (Ser/Asn 167) |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
M |
766 |
1 |
T |
R256C |
1 |
CGC-TGC at ntd 766 -> Arg-Cys at codon 256 |
AR |
German |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (37, 56 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
M |
823 |
1 |
T |
R275W |
1 |
CGG-TGG at ntd 823 -> Arg-Trp at codon 275 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (36, 47 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
P |
1138 |
1 |
C |
1138G/C |
16% |
polymorphism at ntd 1138 (Val/Leu 380) |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
P |
1180 |
1 |
A |
1180G/A |
7% |
polymorphism at ntd 1180 (Asp/Asn 394) |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
M |
1244 |
1 |
A |
T415N |
2 |
ACC-AAC at ntd 1244 -> Thr-Asn at codon 415 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (30, 45, 37, 45 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
N |
1358 |
1 |
A |
W453X |
2 |
TGG-TAG at ntd 1358 -> Trp-Stop at codon 453 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (31, 33, 41 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
S |
171+25 |
1 |
C |
IVS2+25T->C |
19% |
T-C at ntd 171+25 in intron 2 -> aberrant splicing |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
S |
413-20 |
1 |
T |
IVS3-20C->T |
10% |
C-T at ntd 413-20 in intron 3 -> aberrant splicing |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
S |
872-35 |
1 |
G |
IVS7-35A->G |
27% |
A-G at ntd 872-35 in intron 7 -> aberrant splicing |
- |
European |
- |
- |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
LD |
413-100 |
322 |
|
DelEx4 |
2 |
Deletion of exon4 |
AR |
Italian |
tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa |
early, late (38, 41, 58 years) |
Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999). |
|
LD |
872-100 |
1412 |
|
DelEx8-9 |
2 |
Deletion from exon8 to exon9 |
AR |
Algerian |
dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias |
early (14, 18, 7 years) |
Lucking, C. B. et al. Lancet 1355, 352 (1998). |
|
LD |
172-100 |
439 |
|
DelEx3 |
2 |
Deletion of exon3 |
AR |
French |
dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias, lower frequencies of tremor |
late (55, 43 years) |
Lucking, C. B. et al. Lancet 1355, 352 (1998). |
|
LD |
172-100 |
439 |
|
DelEx3 |
2 |
Deletion of exon3 |
AR |
Portuguese |
dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias, lower frequencies of tremor |
early, late (33, 40, 26 years) |
Lucking, C. B. et al. Lancet 1355, 352 (1998). |
|
LD |
172-100 |
439 |
|
DelEx3 |
2 |
Deletion of exon3 |
AR |
Jewish of Yemenite origin |
typical rest tremor, rigidity, bradykinesia, and later postural reflex disturbances that were levodopa responsive and indistinguishable from idiopathic PD |
early (30, 36, 38 years) |
Nisipeanu, P.et al. Neurology 1602, 53 (1999). |
|
P |
500 |
1 |
A |
500G/A |
33% |
polymorphism at ntd 500 (Ser/Asn 167) |
- |
Japanese |
- |
- |
Satoh, J. et al. NeuroReport 2735, 10 (1999). |
non-PD individuals |
P |
500 |
1 |
A |
500G/A |
39.40% |
polymorphism at ntd 500 (Ser/Asn 167) |
sporadic |
Japanese |
- |
- |
Satoh, J. et al. NeuroReport 2735, 10 (1999). |
PD patients |