Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 87, Issue 7, 2016, Pages 793-795

  Luzzi, Simona ^a   Girelli, Francesca ^a   Fiori, Chiara ^a   Ranaldi, Valentina ^a   Baldinelli, Sara ^a   Cameriere, Valentina ^a   Silvestrini, Mauro ^a   Provinciali, Leandro ^a   Rollinson, Sara ^b   Pickering Brown, Stuart ^b   Mann, David ^b   Snowden, Julie S ^b  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALZHEIMER DISEASE; ANTISOCIAL BEHAVIOR; APATHY; ATTENTION DISTURBANCE; C9ORF72 GENE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; DELUSION; DISEASE SEVERITY; DYSTONIA; EMOTIONAL BLUNTING; EMOTIONAL DISORDER; EXECUTIVE DISORDER; FACIAL RECOGNITION; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DYSTONIA; GENE; GENE MUTATION; GENETIC ANALYSIS; HAND DISEASE; HAND DYSTONIA; HUMAN; HYGIENE; HYPERPHAGIA; INFERIOR TEMPORAL GYRUS; ITALIAN (CITIZEN); ITALY; LETTER; MENTAL PERFORMANCE; MIDDLE AGED; MIDDLE TEMPORAL GYRUS; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; TEMPORAL LOBE; THOUGHT DISORDER; VISUAL HALLUCINATION; WORD RECOGNITION; AGED; FRONTOTEMPORAL DEMENTIA; GENETICS; MALE; MUTATION; PEDIGREE; PHENOTYPE;

C9ORF72 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE C9ORF72; REPETITIVE DNA;

AGED; C9ORF72 PROTEIN; DNA REPEAT EXPANSION; DYSTONIA; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84937605499     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2015-311311     Document Type: Letter

References (4)

1. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-56
2. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-68
3. Rohrer JD, Isaacs AM, Mizielinska S, et al. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Lancet Neurol 2015; 14: 291-301
4. Beck J, Poulter M, Hensman D, et al. Large C9ORF72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in thr UK population. Am J Hum Genet 2013; 92: 345-53