Related Experiment Videos
Head tremor in dentatorubral-pallidoluysian atrophy
1Department of Neurology, Juntendo University Izu-Nagaoka Hospital, Tagata, Shizuoka, Japan.
Acta Neurologica Scandinavica
|October 10, 2002
Summary
Dentatorubral-pallidoluysian atrophy (DRPLA), a rare neurodegenerative disorder, can manifest as isolated head tremor. This case report highlights head tremor as a potential early symptom of DRPLA.
Area of Science:
- Neurogenetics
- Neurology
- Movement Disorders
Background:
- Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal-dominant neurodegenerative disorder.
- Clinical features typically include ataxia, myoclonus, seizures, dementia, and choreic movements.
- Head tremor is an infrequently reported symptom in DRPLA.
Observation:
- A 66-year-old woman with genetically confirmed DRPLA presented with a prominent "no-no" type head tremor as her initial symptom.
- Mild cerebellar signs and choreic movements developed later.
- The patient did not exhibit hand tremor, dystonia, dementia, myoclonus, or seizures.
Findings:
- Surface electromyography (EMG) demonstrated rhythmic EMG bursts at 3.5-4 Hz in the sternocleidomastoid muscles.
- DNA analysis confirmed expanded trinucleotide repeats (n=54) in the DRPLA gene.
- These findings support head tremor as a potential presenting symptom of DRPLA.
Implications:
- This case expands the spectrum of clinical manifestations for DRPLA.
- Recognizing head tremor as a potential DRPLA symptom may aid in earlier diagnosis.
- Further research is warranted to understand the pathophysiology of head tremor in DRPLA.