286
Views
9
CrossRef citations to date
0
Altmetric
COGNITION

Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: Broadening the clinical and neuropsychological phenotype

, , , , , , , , , , , & show all
Pages 8-15 | Received 11 Apr 2014, Accepted 25 Aug 2014, Published online: 06 Oct 2014

References

  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC Hexanucleotide Repeat in Non-coding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:245–56.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population based cohort study. Lancet Neurol. 2012;11:232–40.
  • Boeve BF, Boylan KB, Graff-Radford NR, DeJesus- Hernandez M, Knopman DS, Pedraza O, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9orf72. Brain. 2012;135:765–83.
  • Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, et al. Clinical and pathological features of familial frontotemporal dementia caused by C9orf72 mutation on chromosome 9p. Brain. 2012;135:709–22.
  • Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, et al. Frontotemporal dementia with the C9orf72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain. 2012;135:736–50.
  • Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. 2012;135:723–35.
  • Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9orf72 mutations. Brain. 2012;135:693–708.
  • Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, et al. Frontotemporal dementia due to C9orf72 mutations: clinical and imaging features. Neurology. 2012; 79:1002–11.
  • Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9orf72, tau, progranulin and sporadics. Brain. 2012;135:794–806.
  • Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, et al. C9orf72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging. 2012;33:1848–53.
  • Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9orf72. Brain. 2012;135:784–93.
  • Piazza A, Mayr WR, Contu L, Amoroso A, Borelli I, Curtoni ES, et al. Genetic and population structure of four Sardinian villages. Ann Hum Genet. 1985;49:47–63.
  • Cavalli-Sforza LL, Piazza A, Menozzi P, Mountain J. Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data. Proc Natl Acad Sci U S A. 1988;85:6002–6.
  • Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546–54.
  • Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, et al. Classification of primary progressive aphasia and its variants. Neurology. 2011;76: 1006–14.
  • Byrne S, Bede P, Elamin M, Kenna K, Lynch C, McLaughlin R, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:157–9.
  • Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases: El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Spinnler H, Tognoni G. Standardizzazione e Taratura Italiana di Test Neuropsicologici. Ital J Neurol Sci. 1987;8: 1–50.
  • Orsini A, Grossi D, Capitani E, Laiacona M, Papagno C, Vallar G. Verbal and spatial immediate memory span. Normative data from 1355 adults and 1112 children. Ital J Neurol Sci. 1987;8:539–48.
  • Carlesimo GA, Caltagirone C, Gainotti G, Nocentini Ue il gruppo per la standardizzazione della batteria per il deterioramento mentale: batteria per la valutazione del deterioramento mentale (parte II): standardizzazione ed affidabilità diagnostica nell'identificazione di pazienti affetti da sindrome demenziale. Archivio di Psicologia, Neurologia e Psichiatria. 1995;56:471–87.
  • Novelli G, Papagno C, Capitani E, Laiacona M, Vallar G, Cappa SF. Tre test clinici di ricerca e produzione lessicale: taratura su soggetti normali. Archivio di Psicologia, Neurologia e Psichiatria. 1986;47:477–506.
  • Nocentini U, Di Vincenzo S, Panella M, Pasqualetti P, Caltagirone C. La valutazione delle funzioni esecutive nella pratica neuropsicologica: dal Modified Card Sorting Test al Modified Card Sorting test-Roma version. Dati di standardizzazione. Neurologia. 2002;12:14–24.
  • Cafarra P, Vezzadini G, Dieci F, Zonato F, Venneri A. Una versione abbreviata del test di Stroop: dati normativi nella popolazione Italiana. Rivista Neurol. 2002;12:111–5.
  • Miceli G, Burani C, Laudanna A. Batteria per l'analisi dei deficit afasici. Milano, ASRN, 1991.
  • Heaton RK, Chelune GJ, Talley JL, Kay GG, Curtiss G. Wisconsin Card Sorting Test Manual revised and expanded. PAR, 1993.
  • Cummings JL, Mega M, Gray K, Rosenberg-Thompson S, Carusi DA, Gornbein J. The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia. Neurology. 1994;44:2308–14.
  • Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol. 2011;68:594–8.
  • Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, et al. The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson’s disease and other degenerative Parkinsonisms. Neurogenetics. 2013;14: 161–6.
  • Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, et al. Autosomal dominant frontotemporal lobar degeneration due to the C9orf72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biol Psychiatry. 2013;74:384–91.
  • Marrosu MG, Lai M, Cocco E, Loi V, Spinicci G, Pischedda MP, et al. Genetic factors and the founder effect explain familial MS in Sardinia. Neurology. 2002;22;283–8.
  • Pugliatti M, Parish LD, Cossu P, Leoni S, Ticca A, Saddi MV, et al. Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995–2009. J Neurol. 2013;260:572–9.
  • Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81:385–90.
  • Mendez FM, Lauterbach EC, Sampson SM, ANPA Committee on Research. An evidence based review of the psychopathology of frontotemporal dementia: a report of the ANPA committee on research. J Neuropsychiatry Clin Neurosci. 2008;20:130–48.
  • Lillo P, Hodges JR. Cognition and behaviour in motor neuron disease. Curr Opin Neurol. 2010;23:638–42.
  • Devenney E, Hornberger M, Irish M, Mioshi E, Burrell J, Tan R, et al. Frontotemporal Dementia Associated With the C9orf72 Mutation: A Unique Clinical Profile. JAMA Neurol. 2014;71:331–9.
  • Bak TH, Yancopoulou D, Nestor PJ, Xuereb JH, Spillantini MG, Pulvermüller F, et al. Clinical, imaging and pathological correlates of hereditary deficit in verb and action processing. Brain. 2006;129:321–32.
  • Yokoyama JS, Rosen HJ. Neuroimaging features of C9orf72 expansion. Alzheimer's Research & Therapy. 2012;4:45.
  • Hillis AE, Sangjiin O, Ken L. Deterioration of naming nouns versus verbs in primary progressive aphasia. Ann Neurol. 2004;55:268–75.
  • Floris G, Borghero G, Cannas A, Di Stefano F, Costantino E, Murru MR, et al. Frontotemporal dementia with psychosis, Parkinsonism, visuospatial dysfunction, upper motor neuron involvement associated to expansion of C9orf72: a peculiar phenotype? J Neurol. 2012;259: 1749–51.
  • Snowden JS, Rollinson S, Lafon C, Harris J, Thompson J, Richardson AM, et al. Psychosis, C9orf72 and dementia with Lewy bodies. J Neurol Neurosurg Psychiatry. 2012; 83:1031–2.
  • McKeith IG, Dickson DW, Lowe J, Emre M, O’Brien JT, Feldman H, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology. 2005;65:1863–72.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.