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

页码：700 / 702

页数：3

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 [J].

Bandmann, O ;

Nygaard, TG ;

Surtees, R ;

Marsden, CD ;

Wood, NW ;

Harding, AE .

HUMAN MOLECULAR GENETICS, 1996, 5 (03) :403-406

[3] Dopa-responsive dystonia: A clinical and molecular genetic study [J].

Bandmann, O ;

Valente, EM ;

Holmans, P ;

Surtees, RAH ;

Walters, JH ;

Wevers, RA ;

Marsden, CD ;

Wood, NW .

ANNALS OF NEUROLOGY, 1998, 44 (04) :649-656

[4] Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test [J].

Hyland, K ;

Fryburg, JS ;

Wilson, WG ;

Bebin, EM ;

Arnold, LA ;

Gunasekera, RS ;

Jacobson, RD ;

RostRuffner, E ;

Trugman, JM .

NEUROLOGY, 1997, 48 (05) :1290-1297

[5] HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE [J].

ICHINOSE, H ;

OHYE, T ;

TAKAHASHI, E ;

SEKI, N ;

HORI, T ;

SEGAWA, M ;

NOMURA, Y ;

ENDO, K ;

TANAKA, H ;

TSUJI, S ;

FUJITA, K ;

NAGATSU, T .

NATURE GENETICS, 1994, 8 (03) :236-242

[6] HYPERPHENYLALANINEMIA DUE TO A DEFICIENCY OF BIOPTERIN - VARIANT FORM OF PHENYLKETONURIA [J].

KAUFMAN, S ;

BERLOW, S ;

SUMMER, GK ;

MILSTIEN, S ;

SCHULMAN, JD ;

ORLOFF, S ;

SPIELBERG, S ;

PUESCHEL, S .

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 [J].

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 .

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? [J].

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 .

BRAIN, 2000, 123 :1112-1121

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