Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

Neurology

Volumn 81, Issue 13, 2013, Pages 1148-1151

  Charlesworth, Gavin ^a   Mohire, Mahavir D ^b   Schneider, Susanne A ^c   Stamelou, Maria ^a,d,e   Wood, Nicholas W ^a   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Neurology Centre and Research   (India)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF ATHENS   (Greece)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; CARBIDOPA PLUS LEVODOPA; DNA; LEVODOPA; ATM PROTEIN; CARMIL1 PROTEIN, HUMAN; CARRIER PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; AUTOSOMAL RECESSIVE DISORDER; AUTOZYGOSITY MAPPING; CASE REPORT; CERVICAL DYSTONIA; CHILD; COPY NUMBER VARIATION; DOPA RESPONSIVE CERVICAL DYSTONIA; DRUG WITHDRAWAL; EXOME; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; INDIAN; LINKAGE ANALYSIS; LOW DRUG DOSE; LRRC16A GENE; MOSLEM; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; DIFFERENTIAL DIAGNOSIS; DYSTONIC DISORDER; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETICS; INDIA; MALE; METABOLISM; RELIGION;

ALPHA-FETOPROTEINS; CARRIER PROTEINS; CELL CYCLE PROTEINS; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENOTYPE; HUMANS; INDIA; ISLAM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 84887480301     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a55fa2     Document Type: Article

References (10)

1. 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. (Pubitemid 24338734)
2. Brautigam C, Wevers RA, Jansen RJ, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998;44:1897-1904. (Pubitemid 28405753)
3. Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277. (Pubitemid 32695200)
4. Schneider SA, Mohire MD, Trender-Gerhard I, et al. Familial dopa-responsive cervical dystonia. Neurology 2006;66:599-601. (Pubitemid 43739899)
5. Teraoka SN, Telatar M, Becker-Catania S, et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 1999;64: 1617-1631. (Pubitemid 30481513)
6. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair 2004;3:1187-1196. (Pubitemid 38997962)
7. Subramony SH, Durr A. Ataxic Disorders. Edinburgh: Elsevier; 2012.
8. Verhagen MM, Abdo WF, Willemsen MA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009;73:430-437.
9. Saunders-Pullman R, Raymond D, Stoessl AJ, et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012;78: 649-657.
10. Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-875. (Pubitemid 44141653)