Novel compound heterozygous mutations in PRKRA cause pure dystonia

Movement Disorders

Volumn 30, Issue 6, 2015, Pages 877-878

  de Carvalho Aguiar, Patricia ^a,b   Borges, Vanderci ^b   Ferraz, Henrique Ballalai ^b   Ozelius, Laurie Jean ^c  

^a HOSPITAL ISRAELITA ALBERT EINSTEIN   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR BLOCKING AGENT; LEVODOPA; RNA BINDING PROTEIN;

ARTICLE; BASAL GANGLION; BRAZILIAN; CERVICAL DYSTONIA; DYSARTHRIA; DYSPHONIA; DYSTONIA; EXON; FATHER; FEVER; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; MOTHER; MOTOR DYSFUNCTION; PREDICTION; PRIORITY JOURNAL; PRKRA GENE; RECESSIVE INHERITANCE; WILSON DISEASE; COPY NUMBER VARIATION; DYSTONIC DISORDER; EXOME; FAMILY HEALTH; FEMALE; GENETICS; MALE;

DNA COPY NUMBER VARIATIONS; DYSTONIC DISORDERS; EXOME; FAMILY HEALTH; FEMALE; HUMANS; MALE; RNA-BINDING PROTEINS;

EID: 84929653910     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26175     Document Type: Article

References (5)

1. Zech M, Castrop F, Schormair B, et al. DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord 2014;29:1504-1510.
2. De Carvalho Aguiar P, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord 2010;25:2854-2857.
3. Lemmon ME, Lavenstein B, Applegate CD, Hamosh A, Tekes A, Singer HS. A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities. Mov Disord 2013;28:1937-1938.
4. Camargos S, Scholz S, Simón-Sánchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008;7:207-215.
5. Seibler P, Djarmati A, Langpap B, et al. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008;7:380-381.