Literatur
-
1
Fahn S, Bressman S B, Marsden C D.
Classification of dystonia.
Adv Neurol.
1998;
78
1-10
-
2
Klein C, Ozelius L.
Dystonia: Clinical features, genetics, and treatment.
Curr Opin Neurol.
2002;
15
491-497
-
3
Ozelius L J, Hewett J, Page C. et al .
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Nat Genet.
1997;
17
40-48
-
4
Ichinose H, Ohye T, Takahashi E. et al .
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Nat Genet.
1994;
8
236-242
-
5
Knappskog P M, Flatmark T, Mallet J, Lüdecke B, Bartholomé K.
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
Hum Mol Genet.
1995;
4
1209-1212
-
6
Zimprich A, Grabowski M, Asmus F. et al .
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Nat Genet.
2001;
29
66-69
-
7
Almasy L, Bressman S B, Raymond D. et al .
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
Ann Neurol.
1997;
42
670-673
-
8
Leube B, Rudnicki D, Ratzlaff T, Kessler K R, Benecke R, Auburger G.
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
Hum Mol Genet.
1996;
10
1673-1677
-
9
Valente E M, Bentivoglio A R, Cassetta E. et al .
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13 - 36.32 in an Italian family with cranial-cervical or upper limb onset.
Ann Neurol.
2001;
49
362-366
-
10
Bhatia K P.
Familial (idiopathic) paroxysmal dyskinesias: an update.
Semin Neurol.
2001;
21
69-74
-
11
Graeber M B, Kupke K G, Müller U.
Delineation of the dystonia-parkinsonism syndrome locus in Xq13.
Proc Natl Acad Sci USA.
1992;
89
8245-8248
-
12
Kramer P L, Mineta M, Klein C. et al .
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Ann Neurol.
1999;
46
176-182
-
13
Grötzsch H, Pizzolato G P, Ghika J. et al .
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.
Neurology.
2002;
58
1839-1842
-
14 Ozelius L J, Bressman S B. DYT1 dystonia. In: Pulst SM (Hrsg.): Genetics of Movement Disorders. San Diego, London: Academic Press 2003: 407-418
-
15
Coubes P, Roubertie A, Vayssiere N, Hemm S, Echenne B.
Treatment of DYT1 - generalized dystonia by stimulation of the internal globus pallidus.
Lancet.
2000;
355
2220-2221
-
16
Neuwald A F, Aravind L, Spouge J L, Koonin E V.
AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes.
Genome Res.
1999;
9
27-43
-
17
Breakefield X O, Kamm C, Hanson P I.
TorsinA: movement at many levels.
Neuron.
2001;
31
9-12
-
18
Rostasy K, Augood S J, Hewett J W. et al .
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.
Neurobiol Dis.
2003;
12
11-24
-
19
Augood S J, Penney J B, Friberg I K. et al .
Expression of the early-onset torsion dystonia gene (DYT1) in human brain.
Ann Neurol.
1998;
43
669-673
-
20
Gonzalez-Alegre P, Miller V M, Davidson B L, Paulson H L.
Toward therapy for DYT1 dystonia: allele-specific silencing of mutant torsinA.
Ann Neurol.
2003;
53
781-787
-
21
Maniak S, Sieberer M, Hagenah J, Klein C, Vieregge P.
Focal and segmental primary dystonia in north-western Germany - a clinico-genetic study.
Acta Neurol Scand.
2003;
107
228-232
-
22
Wunderlich S, Reiners K, Gasser T, Naumann M.
Cervical dystonia in monozygotic twins: case report and review of the literature.
Mov Disord.
2001;
16
714-718
-
23
Placzec M R, Misbahuddin A, Chaudhuri K R. et al .
Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene.
J Neurol Neurosurg Psychiatry.
2001;
71
262-264
-
24
Misbahuddin A, Placzec M R, Chaudhuri K R. et al .
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
Neurology.
2002;
58
124-126
-
25
Gasser T, Bressman S, Dürr A, Higgins J, Klockgether T, Myers R H.
Molecular diagnosis of inherited movement disorders: Movement Disorders Society Task Force on molecular diagnosis.
Movement Disord.
2003;
18
3-18
-
26
Klein C, Hedrich K, Kabakci K. et al .
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.
Neurology.
2002;
59
1783-1786
-
27 Klein C. Myoclonus and myoclonus-dystonias. In: Pulst SM (Hrsg.): Genetics of Movement Disorders. San Diego, London: Academic Press 2003: 451-471
-
28
Müller B, Hedrich K, Kock N. et al .
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
Am J Hum Genet.
2002;
71
1303-1311
-
29
Klein C, Liu L, Doheny D. et al .
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Ann Neurol.
2002;
52
675-679
-
30
Grimes D A, Han F, Lang A E, St George-Hyslop P, Racacho L, Bulman D E.
A novel locus for inherited myoclonus-dystonia on 18p11.
Neurology.
2002;
59
1183-1186
PD Dr. med. Christine Klein
Klinik für Neurologie · Universität Lübeck
Ratzeburger Allee 160
23538 Lübeck
eMail: klein_ch@neuro.mu-luebeck.de
