Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

Spinocerebellar ataxia type 27B (SCA27B), caused by GAA repeat expansions in FGF14, is an increasingly recognized form of late-onset cerebellar ataxia. However, early diagnosis remains challenging due to mild or absent cerebellar motor signs and often normal brain magnetic resonance imaging (MRI). Oculovestibular abnormalities, although prevalent, are frequently overlooked and not captured by standard clinical scales such as the Scale for the Assessment and Rating of Ataxia (SARA).

Practice Recommendations for Genetic Testing of Ataxias.

Objective: Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at-risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic counseling and testing for individuals with unexplained ataxia.

Methods: We conducted a comprehensive literature review on genetic counseling and testing in ataxia, identifying 7362 articles.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Purpose: XPO1 functions in key cellular processes, including nucleo-cytoplasmic export and mitosis. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome, however no monogenic XPO1-related disorder has been described to date.

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B.

Background: Spinocerebellar ataxia type 27 B (SCA27B) caused by GAA trinucleotide repeats in the fibroblast growth factor 14 gene is emerging as a common cause of late-onset ataxia. Oscillopsia due to downbeat nystagmus (DBN) and diplopia are common symptoms, yet the causes of diplopia and strabismus patterns are poorly defined.

Methods: Retrospective chart review of 18 patients diagnosed with SCA27B over the past year.

Optimization of irrigation and fertilization of apples under magnetoelectric water irrigation in extremely arid areas.

Apple () is one of the important economic crops in the arid areas of Xinjiang, China. For a long time, there has been a problem of high consumption but low yield in water and fertilizer management, prevent improvements in apple quality and yield. In this study, 5-year-old 'Royal Gala' apple trees in extremely arid areas of Xinjiang were used as experimental materials to carry out field experiments.

Crop Leaf Phenotypic Parameter Measurement Based on the RKM-D Point Cloud Method.

Crop leaf length, perimeter, and area serve as vital phenotypic indicators of crop growth status, the measurement of which is important for crop monitoring and yield estimation. However, processing a leaf point cloud is often challenging due to cluttered, fluctuating, and uncertain points, which culminate in inaccurate measurements of leaf phenotypic parameters. To tackle this issue, the RKM-D point cloud method for measuring leaf phenotypic parameters is proposed, which is based on the fusion of improved Random Sample Consensus with a ground point removal (R) algorithm, the K-means clustering (K) algorithm, the Moving Least Squares (M) method, and the Euclidean distance (D) algorithm.

Application of carboxymethyl cellulose sodium (CMCNa) in maize-wheat cropping system (MWCS) in coastal saline-alkali soil.

Sodium carboxymethyl cellulose (CMCNa) application has been a promising approach to improve soil quality. The purpose of this study was to explore the effects of CMC-Na on soil infiltration, evaporation, water-salt distribution, crop growth, water use efficiency and net profit (Net) in a coastal saline-alkali soil maize-wheat cropping system (MWCS). Five CMC-Na application amounts (0, 0.

A case of familial frontotemporal dementia caused by a progranulin gene mutation.

After Alzheimer's disease, Frontotemporal dementia (FTD) is the most common cause of early-onset dementia. Several genetic mutations have been identified in familial FTD, with mutations in progranulin (GRN) accounting for approximately 20-25% of familial FTD cases and about 10% of total FTD cases. We report the case of a familial FTD patient with atypical parkinsonism who was found to have frontotemporal dementia (-FTD) with a pathogenic splice site mutation (c.

The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.

With the increasing availability of predictive genetic testing for adult-onset neurodegenerative conditions, it is imperative that we better understand the impact of learning one's risk status. Frontotemporal degeneration (FTD) is the second most prevalent cause of early-onset dementia. About one-third of patients have an identifiable genetic etiology, and some genetic variants that cause FTD can also cause amyotrophic lateral sclerosis (ALS).

Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis.

Objective: There are limited studies exploring the support and education needs of individuals at-risk for or diagnosed with hereditary frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS). This study evaluated a novel conference for this population to assess conference efficacy, probe how participants assessed relevant resources, and identify outstanding needs of persons at-risk/diagnosed.

Methods: We implemented a post-conference electronic survey that probed participants' satisfaction, prior experience with resources, and unmet needs.

The Genetic Testing Experience of Individuals with Parkinson's Disease.

Background: The perspective and experiences of individuals with Parkinson's disease (PD) regarding genetic testing is limited.

Objectives: To determine if anticipated benefits and negative consequences of genetic testing noted in prior studies have occurred in a surveyed group of patients with PD and to identify reasons why some individuals with PD have not had testing.

Methods: Individuals were surveyed from 22 support/advocacy groups throughout the US.

Sex Chromosome Rearrangement Associated With Hormonal Abnormalities and Gender Dysphoria.

Although disorders arising from sex chromosome and sex steroid abnormalities are well characterized from the perspectives of endocrinology, dysmorphology, and reproductive health, relatively little is known about neuropsychiatric development, gender identity, incongruence, and dysphoria in the populations with these disorders. In this report, we describe the case of a 21-year-old gender nonbinary individual identified as male at birth who presented to an academic psychiatry consultation clinic because of life-long gender dysphoria. The patient was found to have a complex sex chromosomal rearrangement and associated hormonal abnormalities that may, at least in part, explain the patient's history.

Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common disorder in children and adolescents that negatively impacts health-related quality of life (HRQOL). It can include chronic pain, fatigue, autonomic dysfunction, and mood problems. The objective of this study was to examine levels of agreement between children and parents in the setting of hEDS and HRQOL.

Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome.

A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features.

Effect of Sodium Carboxymethyl Cellulose on Water and Salt Transport Characteristics of Saline-Alkali Soil in Xinjiang, China.

The scientific use of sodium carboxymethyl cellulose (CMC) to improve the production capacity of saline-alkali soil is critical to achieve green agriculture and sustainable land use. It serves as a foundation for the scientific use of CMC to clarify the water and salt transport characteristics of CMC-treated soil. In this study, a one-dimensional soil column infiltration experiment was carried out to investigate the effects of different CMC dosages (0, 0.

Experimental Investigation of the Different Polyacrylamide Dosages on Soil Water Movement under Brackish Water Infiltration.

The use of soil conditioners in conjunction with brackish water irrigation is critical for the efficient development and use of brackish water as well as the enhancement of the structure of saline soil and stimulating crop growth. This study investigated the effects of different polyacrylamide (PAM) dosages (0, 0.02%, 0.

Magnetic Water Treatment: An Eco-Friendly Irrigation Alternative to Alleviate Salt Stress of Brackish Water in Seed Germination and Early Seedling Growth of Cotton ( L.).

Magnetized water has been a promising approach to improve crop productivity but the conditions for its effectiveness remain contradictory and inconclusive. The objective of this research was to understand the influences of different magnetized water with varying quality on seed absorption, germination, and early growth of cotton. To this end, a series of experiments involving the seed soaking process, germination test, and pot experiment were carried out to study the effects of different qualities (fresh and brackish water) of magnetized water on seed water absorption, germination, seedling growth, photosynthetic characteristics, and biomass of cotton in 2018.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in , encoding a K48/K63 linkage-specific deubiquitylase.

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.

Pontocerebellar hypoplasia type 1B (PCH1B) describes an autosomal recessive neurological condition that involves hypoplasia or atrophy of the cerebellum and pons, resulting in neurocognitive impairments. Although there is phenotypic variability, this is often an infantile lethal condition, and most cases have been described to be congenital and neurodegenerative. PCH1B is caused by mutations in the gene EXOSC3, which encodes exosome component 3, a subunit of the human RNA exosome complex.