People with Parkinson's disease (PwP) and their care partners experience stress and mental health concerns that affect quality of life and illness management. Mind-body interventions may facilitate adaptive coping and improve quality of life in PwP and their care partners. To evaluate the feasibility, acceptability and potential benefits of a telehealth delivered stress management and resilience building intervention for PwP and their care partners. PwP (n = 32) and their care partners (n = 17) enrolled in an adapted 8-week group mind-body telehealth Stress Management and Resilience Training (SMART) Program for PwP and their care partners (SMART-PD). Participants completed self-report measures on quality of life, health promoting lifestyle behaviors, anxiety, depression, and care partner burden at baseline and at program completion. Thematic analysis of post-intervention participant feedback was also performed. 87% PwP and 88% care partners completed the program. Among PwP, there was a significant improvement in depression (P < 0.001) and anxiety (P = 0.026) scores, as well as quality of life (P < 0.001) and health promoting lifestyle behaviors (P < 0.001) scores. Among care partners, there was a significant improvement in caregiver burden (P = 0.04) and depression (P = 0.028) scores. SMART-PD is a feasible, acceptable and promising intervention to address quality of life, depression, anxiety and health promoting lifestyle behaviors in PwP, as well as caregiver burden in their care partners.

Variants in AFG3-Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene. A 3-year-old girl presented with global developmental delay, vision disturbances and frequent falls. She developed choreoathetosis, feeding difficulty and sleep disturbances from 3.5 years of age. Developmental regression, and optic atrophy were identified. An 11-year-old girl presented with left foot dystonia and tremulousness at 2 years of age which later progressed to developmental regression and generalized dystonia. Bilateral optic disc pallor was observed. In contrast, spinocerebellar ataxia 28 phenotype with variable expressivity was observed in adult patients with inherited heterozygous variant in AFG3L2 gene. Treatment with levodopa offered variable clinical benefits. Our report emphasizes phenotypic heterogeneity in children and adults with heterozygous variant in AFG3L2 gene.

Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left-right coordination and can be caused by a pathogenic variant in the DCC gene. CMMS have been extensively studied in the upper limb, but its impact on lower limb during gait in humans is unclear. Determine the impact of CMMS on locomotor patterns in individuals with a DCC pathogenic variant. The gait pattern of seven individuals with a DCC pathogenic variant and ten healthy controls was assessed using 3D motion capture (kinematics), electromyographic recordings (EMG) of the soleus (SOL) and tibialis anterior (TA) muscles and foot pressure distribution during comfortable walking, fast walking, and running. In comparison to controls, the DCC group exhibited prolonged soleus (SOL) EMG activity and overlapping left-right SOL activation at a comfortable walking speed. No change was noted in TA. Both groups demonstrated increased pressure at the toe during the push-off phase; however, individuals with the most severe CMMS also displayed an early stance-phase pressure peak, reflecting contralateral push-off. These features diminished at higher walking speeds. Kinematic analysis revealed delayed knee flexion and prolonged double-limb support in the DCC group. Group differences were more pronounced when comparing control participants to DCC individuals with observable CMMS (Wood and Tauber scale). DCC variants impair left-right coordination, particularly affecting distal extensor muscle timing during gait. These disruptions are most evident during slow walking and correlate with mirror movement severity.