Hereditary dystonia and parkinsonism: Two sides of the same coin?

Brain

Volumn 137, Issue 9, 2014, Pages 2402-2404

  Weissbach, Anne ^a   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

BRADYKINESIA; CIRCADIAN RHYTHM; DISEASE COURSE; DYSTONIA; EXOME; GENE MUTATION; GENETIC SCREENING; HUMAN; MUTATION RATE; MYOCLONUS DYSTONIA; NERVE DEGENERATION; NOTE; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WALKING DIFFICULTY;

FEMALE; GTP CYCLOHYDROLASE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PARKINSON DISEASE;

EID: 84906663946     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu181     Document Type: Note

References (8)

1. Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider S, Stephani U, et al. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol 2012; 69: 1071-5.
2. Furukawa Y, Filiano JJ, Kish SJ. Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. Mov Disord 2004; 19: 1256-8.
3. Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE. Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 2002; 72: 801-4.
4. Grünewald A, Kasten M, Ziegler A, Klein C. Next-generation phenotyping using the parkin example: time to catch up with genetics. JAMA Neurol 2013; 70: 1186-91.
5. Klepitskaya O, Neuwelt AJ, Nguyen T, Leehey M. Primary dystonia misinterpreted as Parkinson disease: video case presentation and practical clues. Neurol Clin Practice 2013; 3: 469-74.
6. Luciano MS, Ozelius L, Sims K, Raymond D, Liu L, Saunders-Pullman R. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord 2009; 24: 425-8.
7. Mencacci NE, Isaias IU, Reich MM, Plagnol V, Polke JM, Bras J, et al. Parkinson's disease in GTP cyclohydrolase-1 mutation carriers. Brain 2014.
8. Tadic V, Kasten M, Bruggemann N, Stiller S, Hagenah J, Klein C. Doparesponsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 2012; 69: 1-5.