Publications by authors named "A Basinger"
Article Synopsis
- Batten disease is a rare neurogenetic disorder primarily affecting children, characterized by symptoms like seizures, vision loss, and developmental delays, and neurorehabilitation can enhance the quality of life for affected families.
- A study of 70 children with various Batten disease subtypes revealed significant impairments in vision (61%), seizures (68%), and skills like fine motor (65%) and language (83%), with most receiving weekly neurorehabilitation services.
- The findings highlight the need for individualized rehabilitation plans based on clinical features and family preferences, alongside efforts to develop standardized dosing and outcome assessments for effective neurorehabilitation services.
Purpose: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants.
Methods: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals.
Article Synopsis
- Pyruvate carboxylase (PC) deficiency is a rare genetic disorder that leads to severe health issues like lactic acidosis and neurological problems, with few treatment options available.
- Triheptanoin, an anaplerotic agent, has been tested in a small group of individuals with varying results, indicating potential but inconsistent benefits in lowering blood lactate levels and improving quality of life.
- Analysis revealed that individuals with specific mutations in the PC enzyme may respond better to triheptanoin, highlighting the need for more research to understand these differences in treatment response.
We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functionally characterized by electrophysiology in HEK293/CHO cells, together with four previously reported missense variants (Lehman A, Thouta S, Mancini GM, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. 101: 65-74, 2017).
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