Evaluation of motor fluctuations in Parkinson's disease: electronic vs. conventional paper diaries.

Background: Paper symptom diaries are a common tool for assessing motor fluctuations in Parkinson's disease (PD) patients, but there are concerns about inaccuracies in the assessment of motor fluctuation due to recall bias and poor compliance. We, therefore, developed an electronic diary with reminder and real-time recording functions.

Objectives And Methods: To evaluate the effectiveness of the electronic diary, we compared compliance and motor fluctuation assessment with a paper diary.

New Insights into Freezing of Gait in Parkinson's Disease from Spectral Dynamic Causal Modeling.

Background: Freezing of gait is one of the most disturbing motor symptoms of Parkinson's disease (PD). However, the effective connectivity between key brain hubs that are associated with the pathophysiological mechanism of freezing of gait remains elusive.

Objective: The aim of this study was to identify effective connectivity underlying freezing of gait.

The validation of a Japanese version of the New Freezing of Gait Questionnaire (NFOG-Q).

Objective: This study aimed to develop a Japanese version of the New Freezing of Gait Questionnaire (NFOG-Q) and investigate its validity and reliability.

Methods: After translating the NFOG-Q according to a standardised protocol, 56 patients with Parkinson's disease (PD) were administered it. Additionally, the MDS-UPDRS parts II and III, Hoehn and Yahr (H&Y) stage, and number of falls over 1 month were evaluated.

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses.

Clinical Characteristics of Fragile X Syndrome Patients in Japan.

Background: Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown.

Methods: We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey.