The phenylalanine loading test in the differential diagnosis of dystonia

被引：18
作者：
Bandmann, O
Goertz, M
Zschocke, J
Deuschl, G
Jost, W
Hefter, H
Müller, U
Zöfel, P
Hoffmann, G
Oertel, W
机构：
[1] Univ Marburg, Dept Neurol, Marburg, Germany
[2] Univ Marburg, Hochschulrechenzentrum, Marburg, Germany
[3] Univ Heidelberg, Dept Pediat, Heidelberg, Germany
[4] Univ Kiel, Dept Neurol, D-2300 Kiel, Germany
[5] Deutsch Klin Diagnost, Dept Neurol, D-6200 Wiesbaden, Germany
[6] Univ Dusseldorf, Dept Neurol, D-4000 Dusseldorf, Germany
[7] Univ Giessen, Inst Human Genet, Giessen, Germany
来源：
NEUROLOGY | 2003年 / 60卷 / 04期
关键词：
D O I：
10.1212/01.WNL.0000048205.18445.98
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Early diagnosis of dopa-responsive dystonia (DRD) and its delineation from other dystonic syndromes is of great relevance because DRD is an eminently treatable condition. The possible relevance of the phenylalanine loading test (Phe-L) in differentiating DRD from primary focal and generalized dystonia was investigated. A marked difference in the phenylalanine/tyrosine ratio between patients with DRD and patients with other types of dystonia was observed. This indicates that Phe-L may be helpful in the differential diagnosis of dystonias.
引用
收藏
页码：700 / 702
页数：3
相关论文
共 10 条
  • [1] ASHMAN K, 1985, MODERN METHODS PROTE, P155
  • [2] Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
    Bandmann, O
    Nygaard, TG
    Surtees, R
    Marsden, CD
    Wood, NW
    Harding, AE
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (03) : 403 - 406
  • [3] Dopa-responsive dystonia: A clinical and molecular genetic study
    Bandmann, O
    Valente, EM
    Holmans, P
    Surtees, RAH
    Walters, JH
    Wevers, RA
    Marsden, CD
    Wood, NW
    [J]. ANNALS OF NEUROLOGY, 1998, 44 (04) : 649 - 656
  • [4] Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test
    Hyland, K
    Fryburg, JS
    Wilson, WG
    Bebin, EM
    Arnold, LA
    Gunasekera, RS
    Jacobson, RD
    RostRuffner, E
    Trugman, JM
    [J]. NEUROLOGY, 1997, 48 (05) : 1290 - 1297
  • [5] HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE
    ICHINOSE, H
    OHYE, T
    TAKAHASHI, E
    SEKI, N
    HORI, T
    SEGAWA, M
    NOMURA, Y
    ENDO, K
    TANAKA, H
    TSUJI, S
    FUJITA, K
    NAGATSU, T
    [J]. NATURE GENETICS, 1994, 8 (03) : 236 - 242
  • [6] HYPERPHENYLALANINEMIA DUE TO A DEFICIENCY OF BIOPTERIN - VARIANT FORM OF PHENYLKETONURIA
    KAUFMAN, S
    BERLOW, S
    SUMMER, GK
    MILSTIEN, S
    SCHULMAN, JD
    ORLOFF, S
    SPIELBERG, S
    PUESCHEL, S
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1978, 299 (13) : 673 - 679
  • [7] Luedecke Barbara, 1995, Human Genetics, V95, P123
  • [8] The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein
    Ozelius, LJ
    Hewett, JW
    Page, CE
    Bressman, SB
    Kramer, PL
    Shalish, C
    deLeon, D
    Brin, MF
    Raymond, D
    Corey, DP
    Fahn, S
    Risch, NJ
    Buckler, AJ
    Gusella, JF
    Breakefield, XO
    [J]. NATURE GENETICS, 1997, 17 (01) : 40 - 48
  • [9] Saunders-Pullman R, 2000, ANN NEUROL, V48, P466
  • [10] Levodopa-responsive dystonia -: GTP cyclohydrolase I or parkin mutations?
    Tassin, J
    Dürr, A
    Bonnet, AM
    Gil, R
    Vidailhet, M
    Lücking, CB
    Goas, JY
    Durif, F
    Abada, M
    Echenne, B
    Motte, J
    Lagueny, A
    Lacomblez, L
    Jedynak, P
    Bartholomé, B
    Agid, Y
    Brice, A
    [J]. BRAIN, 2000, 123 : 1112 - 1121
1