X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy caused by pathogenic variants in the myotubularin 1 (MTM1) gene. XLMTM leads to severe weakness in male infants and majority of them die in the early postnatal period due to respiratory failure. Disease manifestations in female carriers vary from asymptomatic to severe, generalized congenital weakness.

A comparison of indirect and direct targeted STN DBS in the treatment of Parkinson's disease-surgical method and clinical outcome over 15-year timespan.

Background: Deep brain stimulation (DBS) in the subthalamic nucleus (STN) is used in advanced Parkinson's disease (PD) for reducing motor fluctuations and the side effects of antiparkinsonian medication (APM). The development of neuroimaging has enabled the direct targeting of the STN. The aim of this study is to evaluate the outcome in patients with PD using STN DBS when changing from atlas-based indirect targeting method (iTM) to direct MRI-based targeting (dTM) assuming dTM is superior.

Sweating in Parkinsonian patients with wearing-off.

Disorders of the autonomic nervous system are common in Parkinson's disease (PD). Earlier studies suggest that some nonmotor symptoms may fluctuate with the motor symptoms, but the possible interrelationship between motor phenomena and sweating has not been studied. The authors measured sweating by using an evaporimeter on three different areas of the body (right hand, left hand, chest) immediately before the morning PD medication (baseline), and thereafter hourly up to 4 hour, in 16 PD patients with wearing-off type of motor fluctuations and in 15 patients without clinical motor fluctuations.

Subthalamic nucleus deep brain stimulation does not alter long-term heart rate variability in Parkinson's disease.

The power spectra of the heart rate variability frequency bands, analyzed from 24-hour ECG recordings, did not change 12 months after bilateral subthalamic nucleus operation in 14 patients with Parkinson's disease.

Bilateral subthalamic nucleus stimulation improves health-related quality of life in Parkinsonian patients.

Parkinson's disease (PD) is a common neurological disorder. Recently, bilateral deep brain stimulation (DBS) of the subthalamic nucleus (STN) has become an option in the treatment of severe PD. We measured the health-related quality of life (HRQoL) of 27 parkinsonian patients, who underwent a bilateral STN-operation.

Nocturnal cardiac autonomic regulation in Parkinson's disease.

Diminished heart rate (HR) variability has been reported in patients with early phase Parkinson's disease (PD) using standardized cardiovascular reflex tests. However, limited data exist on HR variability during sleep; thus the present study was performed to investigate the characteristics of HR variability during different sleep stages. The HR variability of 21 newly diagnosed and untreated PD patients and of 22 control subjects was evaluated by using time domain, frequency domain and non-linear methods and by analyzing HR reactions to body movements during the different sleep stages (non-REM stages S1-4 and the REM stage).

Circadian heart rate variability in Parkinson's disease.

Parkinson's disease is known to affect the reflex cardiovascular control systems, resulting in a suppressed heart rate variability, but present knowledge concerning the long-term characteristics of heart rate and heart rate variability, e. g. circadian regulation, is limited.