Frequency and Pathophysiology of Apathy in Huntington Disease: A Systematic Review and Meta-Analysis.

Objective: Apathy is a common behavioral symptom of Huntington disease (HD). This systematic review describes current evidence on the pathophysiology, assessment, and frequency of apathy in HD.

Methods: This systematic review was conducted in accordance with PRISMA guidelines.

Chorea.

Purpose Of Review: This article provides an overview of the diagnostic and therapeutic approach to a patient with chorea. The phenomenology of chorea is described in addition to other common hyperkinetic movements that may be mistaken for or coexist with chorea. Chorea can be acquired or hereditary.

Cerebral blood flow is associated with markers of neurodegeneration in Huntington's disease.

Introduction: The ultimate cause of neuronal death in Huntington's disease (HD) is still uncertain. Apart from impairment in systems handling abnormal proteins, other mechanisms might contribute to neurodegeneration and progression of HD. Decreased cerebral blood flow (CBF) has been described in other neurodegenerative disorders and may play a role in HD.

HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis.

Perturbation of huntingtin (HTT)'s physiological function is one postulated pathogenic factor in Huntington's disease (HD). However, little is known how HTT is regulated in vivo. In a proteomic study, we isolated a novel ~40kDa protein as a strong binding partner of Drosophila HTT and demonstrated it was the functional ortholog of HAP40, an HTT associated protein shown recently to modulate HTT's conformation but with unclear physiological and pathologic roles.

Olfactory Dysfunction in Huntington's Disease.

Olfactory dysfunction is a common symptom in patients with neurodegenerative disorders, including Huntington's disease (HD). Understanding its pathophysiology is important in establishing a preventive and therapeutic plan. In this literature review, we cover the physiology of olfaction, its role in neurodegeneration, and its characteristics in patients with HD.

Sleep Dysfunction in Huntington's Disease: Perspectives from Patients.

Background: Despite the abundance of clinical tools, sleep disorders are still not routinely evaluated in patients with Huntington's disease (HD). Sleep disturbances can exacerbate cognitive impairment and mood disorders and seriously affect the life of the patients and their families.

Objective: The current study was designed to investigate sleep quality and its association with clinical symptoms in HD.

Irritability in Huntington's Disease.

Huntington's disease (HD) is a heritable and fatal neurodegenerative disease characterized by a triad of motor, cognitive and neuropsychiatric symptoms. A common and particularly detrimental neuropsychiatric alteration in HD gene carriers is irritability, which frequently manifests as abrupt and unpredictable outbursts of anger. This symptom increases the burden of HD in multiple ways, such as jeopardizing employment and straining familial or caregiver support.

The role of residents in medical students' neurology education: current status and future perspectives.

Background: Neurophobia, a well-described fear of neurology, affects medical students worldwide and may be one of the factors contributing to a shortage of neurologists in the United States. Residents spend a considerable amount of time with medical students; therefore, we sought to understand better the impact neurology residents have on medical students during their neurology clerkship and their subsequent interest in neurology. We aimed to identify and implement strategies to decrease neurophobia and increase the number of students pursuing neurology as a career.

Promises and pitfalls of immune-based strategies for Huntington's disease.

Huntington's disease (HD) is an autosomal-dominant neurodegenerative disease characterized by the selective loss of neurons in the striatum and cortex, leading to progressive motor dysfunction, cognitive decline and behavioral symptoms. HD is caused by a trinucleotide (CAG) repeat expansion in the gene encoding for huntingtin. Several studies have suggested that inflammation is an important feature of HD and it is already observed in the early stages of the disease.

Immunomodulatory Strategies for Huntington's Disease Treatment.

Background & Objective: Huntington's disease (HD) is an autosomal-dominant, progressive neurodegenerative disease characterized by selective loss of neurons in the striatum and cortex, which leads to progressive motor dysfunction, cognitive decline and behavioral symptoms. HD is caused by a trinucleotide (CAG) repeat expansion in the gene encoding the protein huntingtin. Despite the fact that the HD gene was identified over 20 years ago, there is no effective disease-modifying therapy for HD and only symptomatic therapies are available to date.

Huntingtin functions as a scaffold for selective macroautophagy.

Selective macroautophagy is an important protective mechanism against diverse cellular stresses. In contrast to the well-characterized starvation-induced autophagy, the regulation of selective autophagy is largely unknown. Here, we demonstrate that Huntingtin, the Huntington disease gene product, functions as a scaffold protein for selective macroautophagy but it is dispensable for non-selective macroautophagy.

Prospective 12-month study of intrathecal baclofen therapy for poststroke spastic upper and lower extremity motor control and functional improvement.

Objectives: To assess the effects of intrathecal baclofen (ITB) therapy for the treatment of poststroke spastic hemiparesis on quality of life, functional independence, and upper, lower extremity (UE, LE) motor functions.

Materials And Methods: Prospective observational study of adult men and women with a minimum 6-month stroke-related spastic hemiparesis graded as ≥2 in UE and LE on Modified Ashworth Scale (MAS). Patients served as their own controls with measures compared pre-implant with 12 months post ITB including: MAS, manual muscle test (MMT), gait distance/velocity, Functional Independence Measures (FIM), stroke-specific quality of life scale (SSQL), and upper extremity manual activity log.

Reduced volume of the putamen in REM sleep behavior disorder patients.

Objective: The purpose of this study was to quantify volumes of specific subcortical gray matter nuclei implicated in Parkinson's disease (PD) as a preliminary step for identifying a non-invasive clinical biomarker for PD. We hypothesized that REM sleep behavior disorder (RBD) patients, at risk for developing PD, will demonstrate a pattern of neuronal degeneration reflected in reduced striatal volumes on T1-weighted MRI.

Methods: We compared measures of RBD patients confirmed by polysomnography (PSG) with groups of age/gender-matched Control subjects and early PD (EPD) patients (Hoehn & Yahr < 2).