Journal of Neurology

, Volume 260, Issue 6, pp 1681–1683 | Cite as

Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP

  • Martin Pail
  • Radoslav Matej
  • Ivica Husarova
  • Irena RektorovaEmail author
Letter to the Editors

Dear Sirs,

Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, shock-like, and involuntary jerks caused by muscular contractions or interruptions of tonic muscle activity [1]. It could be a part of clinical picture of several neurodegenerative disorders, especially in Creutzfeldt–Jakob disease (CJD), tauopathies (cortico-basal degeneration or progressive supranuclear palsy), Alzheimer’s disease (AD) and in synucleinopathies, such as dementia with Lewy bodies [2].

We report on a patient who developed generalized asymmetric myoclonus associated with frontotemporal lobar degeneration with TDP-43 positive inclusions (FTLD-TDP).

A 77-year-old man developed apathy and loss of initiative as the first and predominant signs of his disease in September 2010. In December 2010, hypophonia, dysarthria, and expressive aphasia developed gradually (language comprehension was not affected). In January 2011, cerebellar gait disorder and myoclonus of the upper extremities...


Amyotrophic Lateral Sclerosis Motor Neuron Disease Progressive Supranuclear Palsy Frontotemporal Lobar Degeneration Lewy Body Dementia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The study was supported by the project “CEITEC—Central European Institute of Technology” (CZ.1.05/1.1.00/02.0068) from the European Regional Development Fund, and by grant IGA NT 12094-5/2011 from the Czech Ministry of Health.

Conflicts of interest

The authors have no conflict of interest concerning the research related to the manuscript.

Ethical standard

The patient and his family gave their informed consent to the case report publication. The study has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

Supplementary material

Legend to Video. The clinical features mentioned above are presented in the patient described in the present report. The video shows generalized myoclonus with left-sided predominance. The myoclonus is enhanced by action. (MPG 45408 kb)


  1. 1.
    Fahn S, Marsden CD, Van Woert MH (1986) Definition and classification of myoclonus. Adv Neurol 43:1–5PubMedGoogle Scholar
  2. 2.
    Caviness JN (2003) Myoclonus and neurodegenerative disease—what’s in a name? Parkinsonism Relat Disord 9:185–192PubMedCrossRefGoogle Scholar
  3. 3.
    Zerr I, Kallenberg K, Summers DM et al (2009) Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 132:2659–2668PubMedCrossRefGoogle Scholar
  4. 4.
    Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM (2011) A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122:111–113PubMedCrossRefGoogle Scholar
  5. 5.
    Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD (2011) Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain 134:2565–2581PubMedCrossRefGoogle Scholar
  6. 6.
    Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133PubMedCrossRefGoogle Scholar
  7. 7.
    Rascovsky K, Hodges JR, Knopman D et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456–2477PubMedCrossRefGoogle Scholar
  8. 8.
    Sorbi S, Hort J, Erkinjuntti T et al (2012) EFNS-ENS Guidelines on the diagnosis and management of disorders associated with dementia. Eur J Neurol 19:1159–1179PubMedCrossRefGoogle Scholar
  9. 9.
    Masellis M, Momeni P, Meschino W, Heffner R, Elder J, Sato C, Liang Y, George-Hyslop P, Hardy J, Bilbao J, Black S, Rogaeva E (2006) Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 29:3115–3123CrossRefGoogle Scholar
  10. 10.
    Civardi C, Collini A, Mazzini L, Testa L, Monaco F (2010) Isolated continuous lingual myoclonus: unusual presentation of amyotrophic lateral sclerosis. Mov Disord 25:1309–1310PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Martin Pail
    • 1
    • 2
  • Radoslav Matej
    • 3
    • 4
  • Ivica Husarova
    • 1
    • 2
  • Irena Rektorova
    • 1
    • 2
    Email author
  1. 1.First Department of Neurology, School of Medicine, St. Anne’s University HospitalMasaryk UniversityBrnoCzech Republic
  2. 2.Brain and Mind Research Programme, CEITEC MU—Central European Institute of TechnologyMasaryk UniversityBrnoCzech Republic
  3. 3.Department of Pathology and Molecular MedicineThomayer HospitalPragueCzech Republic
  4. 4.Department of Neurology and Centre of Clinical Neuroscience, First Faculty of MedicineCharles University in PraguePragueCzech Republic

Personalised recommendations