Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant.

We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous variant (c.C1361 T, p.P454L).

Enhancing oncodermatology support: assessing patient utilization and satisfaction with educational resources for managing dermatologic toxicities of cancer treatment.

Dermatologic toxicities resulting from cancer treatments are common, debilitating, and can significantly impact a patient's quality of life. In some cases, these toxicities may require dose adjustments or even discontinuation of treatment. Timely management of dermatologic adverse events (DAEs) is crucial to improving patient outcomes, and educational resources are instrumental in empowering patients to recognize and manage these issues.

Dissociable roles of distinct thalamic circuits in learning reaches to spatial targets.

Reaching movements are critical for survival, and are learned and controlled by distributed motor networks. Even though the thalamus is a highly interconnected node in these networks, its role in learning and controlling reaches remains underexplored. We report dissociable roles of two thalamic forelimb circuits coursing through parafascicular (Pf) and ventroanterior/ventrolateral (VAL) nuclei in refining reaches to a spatial target.

Exploration biases forelimb reaching strategies.

The brain can generate actions, such as reaching to a target, using different movement strategies. We investigate how such strategies are learned in a task where perched head-fixed mice learn to reach to an invisible target area from a set start position using a joystick. This can be achieved by learning to move in a specific direction or to a specific endpoint location.

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.

Background: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated.

Objectives: To study the prevalence of fatigue in SCAs, the factors contributing to fatigue, and the influence of fatigue on quality of life.

Severe Contour Deformity of the Hip Following Corticosteroid Injection.

A 50-year-old woman developed severe soft tissue atrophy of the hip following a triamincolone acetonide injection to the greater trochanteric bursa. Saline injection therapy was initially attempted without improvement and the defect was ultimately treated effectively with serial fat grafting. Adverse soft tissue reactions are rare but potentially devastating complications of corticosteroid injections, and the use of soluble steroid preparations and proper injection techniques can minimize the risk to surrounding tissue.

Gambling associated risk-taking decision in cerebellar ataxia.

Introduction: People with cerebellar ataxia (CA) can develop impulsive and compulsive behaviors that significantly affect their and their family's quality of life. To further assess the decision-making process associated with these behaviors, we used the Iowa Gambling Task (IGT) to study people with CA.

Methods: Sixty individuals with CA and thirty age-matched controls were enrolled in the study to complete the IGT.

Cerebellar impulsivity-compulsivity assessment scale.

Objective: The cerebellum has been identified as the key brain region that modulates reward processing in animal models. Consistently, we recently found that people with cerebellar ataxia have impulsive and compulsive behaviors (ICBs), the main symptoms related to abnormal reward processing. Due to the lack of a validated scale to quantitatively measure ICBs in cerebellar disorders, we aim to develop and validate a new scale, Cerebellar Impulsivity-Compulsivity Assessment (CIA).

Clinicopathological correlates of pyramidal signs in multiple system atrophy.

Objective: Pyramidal signs are common but often under-recognized in multiple system atrophy (MSA). The clinicopathological correlates of pyramidal signs in MSA are not well characterized. The present study aims to understand the role of pyramidal signs in MSA.

Impulsivity Trait Profiles in Patients With Cerebellar Ataxia and Parkinson Disease.

Background And Objectives: Individuals with cerebellar ataxia (CA) can develop impulsive behavioral symptoms, often resulting in negative interpersonal consequences, detrimentally affecting their quality of life. Limited evidence exists concerning impulsivity in CA and its associated behavioral changes. We assessed impulsive traits in CA using the Barratt Impulsivity Scale (BIS-11) and compared them with those of Parkinson disease (PD) to investigate the differences in the impulsive trait profiles between CA and PD.

The Efficacy and Safety of Transcranial Direct Current Stimulation for Cerebellar Ataxia: a Systematic Review and Meta-Analysis.

A promising new approach, transcranial direct current stimulation (tDCS) has recently been used as a therapeutic modality for cerebellar ataxia. However, the strength of the conclusions drawn from individual studies in the current literature may be constrained by the small sample size of each trial. Following a systematic literature retrieval of studies, meta-analyses were conducted by pooling the standardized mean differences (SMDs) using random-effects models to assess the efficacy of tDCS on cerebellar ataxia, measured by standard clinical rating scales.