Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP
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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 . 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 .
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...
KeywordsAmyotrophic Lateral Sclerosis Motor Neuron Disease Progressive Supranuclear Palsy Frontotemporal Lobar Degeneration Lewy Body Dementia
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.
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.
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)
- 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.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