Clinical/Scientific Notes
Coexistence of Movement Disorders and Epilepsia Partialis Continua as Initial Signs in Probable Creutzfeldt-Jakob Disease
Berril Donmez, MD,1 Raif Çakmur, MD,1* Süleyman Men, MD,2 Ibrahim Oztura, MD,1 and Arzu Kitis, MD3
1Department of Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey
2Department of Radiology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey
3Department of Psychiatry, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey
Abstract: Movement disorders and epilepsy rarely occur in the early stages of Creutzfeldt-Jakob disease (CJD) and have not previously been reported together. We present a 47-year-old patient with probable CJD who exhibited generalized chorea and focal dystonia accompanied by myoclonic jerks in the right hand. Within 5 days of hospitalization, the myoclonic jerks progressed to epilepsia partialis continua. The diagnosis was consistent with probable CJD based on clinical progression, electroencephalography findings, diffusion-weighted MRI, and the presence of 14-3-3 protein in cerebrospinal fluid. To our knowledge, this is the first reported case demonstrating both movement disorders and epilepsia partialis continua in the early stage of the disease.
Key words: chorea; Creutzfeldt-Jakob disease; epilepsia partialis continua
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and usually fatal spongiform encephalopathy, often leading to death within one year. Patients may initially present with nonspecific symptoms, rapid cognitive decline, or focal neurological signs such as ataxia, aphasia, visual impairment, or hemiparesis. Although rare, movement disorders may also appear as early symptoms, whereas seizures are typically observed in later stages.
Case Report
A 47-year-old woman presented with generalized chorea, dystonic posture, and myoclonic jerks affecting the right hand. She reported a 3-week history of mild imbalance, concentration difficulties, anxiety, and numbness in the right hand. Initial neurological examination revealed preserved orientation and normal Mini-Mental State Examination results, although gait ataxia was observed.
Following low-dose haloperidol treatment, choreic movements and dystonia improved, but myoclonic jerks progressed to epilepsia partialis continua within 5 days. Anticonvulsant therapy with valproic acid was initiated but proved ineffective. The patient subsequently developed lethargy, right-sided weakness, and cognitive decline, eventually progressing to coma within 10 weeks and death after 5 months.
Laboratory investigations excluded alternative diagnoses. Cerebrospinal fluid analysis revealed the presence of 14-3-3 protein. EEG findings showed progressive abnormalities, and MRI demonstrated signal changes in the basal ganglia, supporting the diagnosis of probable CJD.
Discussion
CJD is characterized by rapidly progressive dementia, myoclonus, ataxia, and extrapyramidal symptoms. Diagnosis of probable CJD relies on clinical findings supported by EEG abnormalities and/or detection of 14-3-3 protein in cerebrospinal fluid.
Movement disorders are typically seen in later stages but can rarely appear at disease onset. Similarly, epilepsia partialis continua is uncommon as an initial symptom. This case highlights the importance of considering CJD in patients presenting with unusual combinations of early neurological signs.
MRI findings, particularly diffusion-weighted imaging abnormalities in basal ganglia structures, play a crucial role in early diagnosis. The presence of 14-3-3 protein further supports the diagnosis, although it is not entirely specific.
This report demonstrates that movement disorders and epilepsia partialis continua may coexist as early manifestations of CJD, emphasizing the need for careful evaluation in atypical presentations.
Stages 1–2 Non-REM Sleep Behavior Disorder Associated With Dementia: A New Parasomnia?
Isabelle Arnulf, MD, PhD,1* et al.
Abstract: A 55-year-old woman with progressive dementia exhibited abnormal nocturnal behaviors including speaking, laughing, crying, and complex movements during sleep. Polysomnography revealed features of both non-REM and REM sleep behavior disorders. This newly described condition suggests a disinhibition of motor control during non-REM sleep.
Key words: parasomnia; REM sleep behavior disorder; non-REM sleep; dementia
REM sleep behavior disorder (RBD) is characterized by abnormal motor activity during REM sleep due to loss of normal muscle atonia. It is frequently associated with neurodegenerative diseases. This case describes a patient with dementia exhibiting abnormal behaviors during both REM and non-REM sleep, suggesting a novel parasomnia.
Movement Disorders, Vol. 20, No. 9, 2005