Setting: University hospital. Patients: We performed extensive mutation analyses of PINK1 in 414 PD patients negative for parkin mutations (mean [SD] age at onset, 42.8 [14.3] years), including 391 unrelated patients (190 patients with sporadic PD and 201 probands of patients with familial PD) from 13 countries. Results: We found 10 patients with PD from 9 families with PINK1 mutations and identified 7 novel mutations (2 homozygous mutations [p.D297MfsX22 and p.W437R] and 5 single heterozygous mutations [p.A78V, p.P196QfsX25, p.M342V, p.W437R, and p.N542S]). No compound heterozygous mutations were found. The frequency of homozygous mutations was 4.26% (2 of 47) in families with autosomal recessive PD and 0.53% (1 of 190) in patients with Author Affiliations are listed at the end of this article.

Fatigue is one of the most common symptoms in patients with Parkinson's disease (PD), and its impact on the quality of life is substantial. However, its cause and treatment are not established. Fatigue in PD has two components, peripheral and central, which may be related to each other, but are more likely independent. Fatigue is partially associated with depression or sleep disorders, but patients with fatigue are not always depressed and do not necessarily have sleep problems. Anti-PD drugs may exacerbate or reduce fatigue. The impact of fatigue in PD is often underestimated by health-care providers.

A 61-year-old woman with no history of neck trauma had sudden onset of neck pain, then developed loss of consciousness, and was transferred to our hospital. On admission, she was in a coma, and quadriparetic with bilateral pathological reflexes. T2-weighted MR images clearly demonstrated high-intensity areas in right lower and left upper pons, and an intimal flap within the tangent view of basilar artery ( visualization of the distal portion in the left vertebral artery (Fig. 2), and an angiogram revealed tapered occlusion in basilar artery. These findings may indicate that spontaneous spiral dissection in the basilar artery caused the occlusion of the paramedian arteries, giving rise to infarction in alternate sides of the pons. To date various types of brainstem infarction by dissection of the basilar artery have been reported, but there is no report showing crossed infarction within pons.

We report a 34-year-old female PARK2 patient presenting with dopa-responsive dystonia (DRD). She noticed difficulty in raising her foot while walking at the age of 24. Her lower limb symptoms were identified as dystonia later, and she was started on Menesit, which resulted in improvement of her symptoms. She was diagnosed as DRD and has been on continuous treatment since then. The specific binding ratio (SBR) of ¹²³I FP-CIT SPECT was significantly lower than those of controls of the same age, but ¹²³I-meta-iodobenzylguanidine myocardial scintigraphy showed a normal heart to mediastinum ratio. The Montreal Cognitive Assessment, Japanese version, was normal for her age. DRD is an inherited dystonia that typically begins during childhood and may be caused by mutations of the GCH1 (GTP cyclohydrolase), SPR (sepiapterin reductase), or TH (tyrosine hydroxylase) genes. Our patient was diagnosed as PARK2, known as autosomal-recessive juvenile Parkinson’s disease, based on genetic analysis. Although there was no family history of the disease, the decrease in SBR of ¹²³I FP-CIT SPECT enabled us to diagnose PARK2 and to differentiate this from DRD due to other genetic disorders.

Background: As motor symptoms of Parkinson's disease (PD) progress, visits to medical clinics for patients and caregivers become burdensome. Aim:The aim of this study is to examine satisfaction with an integrated digital platform (online medical examination, online medication instruction, drug delivery, and remote patient monitoring) in PD.Methods: This multicenter, prospective, observational pilot study (July 2020-March 2021), comprising face-to-face (weeks 0-4) and online (weeks 5-16) periods, included patients with PD aged ≥20 years capable of visiting a clinic. PD symptoms were collected via a smartwatch and mobile phone. Patient-assessed (primary objective) and caregiver-and physician-assessed (secondary objectives) satisfaction was evaluated using the Client Satisfaction Questionnaire-8 (CSQ-8) and a self-completed questionnaire, respectively. Changes in patient and caregiver burden were also assessed (exploratory objective).Results: Thirty patients, 15 caregivers, and six physicians participated. The mean (SD) age of patients was 66.7 (8.5) years, 63.3% were male, mean (SD) duration of disease was 8.04 (5.4) years. CSQ-8 total mean (SD) score was 25.6 (3.06), 25.7 (3.05), and 23.2 (3.96) at week 0 (n = 30), week 4 (n = 30), and week 16 (n = 29), respectively. Assessment of the individual components of the digital platform indicated a degree of satisfaction with online medical examination and online medication instruction and drug delivery; satisfaction with remote patient monitoring was moderate. During the online period, patient and caregiver burdens were reduced. Conclusion: Patients, caregivers, and physicians were satisfied with the integrated digital platform. Future research to prove the medical usefulness of this platform is required.