[Amyotrophic lateral sclerosis associated with extrapyramidal symptoms or signs].

This investigation was conducted to clarify the frequency and characteristics of ALS associated with extrapyramidal symptoms or signs in Wakayama prefecture. The questionnaires to survey ALS cases were mailed to all medical centers in Wakayama prefecture. A total of 252 cases were found to have motor neuron diseases. Among them, 204 cases fulfilled probable or definite according to El Escorial Criteria. In 10 of them, extrapyramidal signs were identified as follows: rigidity 50%, tremor 40% and akinesia 10%. Family history of ALS in these cases (20%) is higher than expected in usual ALS, and all of them are negative for SOD-1 mutation. Dementia and autonomic nervous symptoms were observed in several cases. Incidence of extrapyramidal signs in ALS resulted in 4.8%. The incidence of extrapyramidal signs is more frequent than expected by chance, suggesting that the degeneration of basal ganglia and/or substantia nigra may not be so rare in ALS.

[Transcranial sonography findings in Parkinson's disease].

Interest in diagnostic biomarkers that improve identification of Parkinson's disease (PD) in the early stages has been recently increasing. Accurate diagnosis of PD is currently a challenge for clinical neurologists. In addition, recent advances in basic research towards neuroprotective strategies for PD are increasingly highlighting the need for diagnostic biomarkers that improve identification of PD in the early stages. As such, substantia nigra hyperechogenicity visualized by transcranial sonography (TCS) has gained increasing attention and has been implemented in PD diagnosis globally. As substantia nigra hyperechogenicity offers unique information supplementary to those provided by other neuroimaging techniques, and this echofeature is stable during the disease course, it is very helpful in early and differential diagnosis of PD. The pathophysiologic conditions underlying this echofeature are not fully understood; however, it maybe associated with increased amounts of iron. It should be reminded that there are several limitations in conducting TCS. The main limitation is that in Japanese subjects the rate of temporal bone window sufficient for an adequate sonographic analysis prominently decreases with advancing age, particularly in females. Another limitation is that measurements may vary between two laboratories. Therefore, investigators are required to generate their own reference values. Despite these limitations, TCS can be recommended as a useful technique for the diagnosis of PD owing to its fast and easy use, low cost, and noninvasive nature. This review summarizes the TCS technique, the typical findings, and their value in the diagnosis and differential diagnosis of PD.

Transcranial sonography of the substantia nigra in Japanese patients with Parkinson's disease or atypical parkinsonism: clinical potential and limitations.

OBJECTIVE: There is growing interest in the use of transcranial sonography (TCS) of the substantia nigra (SN) in patients with Parkinson's disease (PD), as it has been reported that SN hyperechogenicity may be present in about 90% of PD patients. However, TCS of the SN has not been applied in Japanese patients, and its clinical potential has not been determined. PATIENTS AND METHODS: TCS of the SN was performed in patients with PD, progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and essential tremor (ET), and age-matched controls. Ultrasound images of the SN were assessed using semi-qualitative estimation criteria by two investigators unaware of clinical diagnosis. RESULTS: SN hyperechogenicity was observed in approximately 83% of accessible SNs in Japanese PD patients. In comparison, SN hyperechogenicity was less frequently observed in healthy subjects or in patients with PSP, MSA, and ET. However, the rate of successful recording of the SN by TCS decreased prominently with advancing age, particularly in females. CONCLUSION: The present study confirmed that TCS of the SN is potentially useful in the investigation of Japanese patients, and it provides a better differential diagnosis between PD and atypical parkinsonism. The recording failure of TCS in aged, particularly female subjects, may limit the clinical potential of TCS of the SN in Japanese patients.