Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided different conclusions on the nature of the motor disorder. The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date. A total of 44 patients ranging from 2 to 38 years presented a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia. Although some patients also displayed other extrapyramidal or pyramidal signs, these were always less prominent than dystonia. These results are compared with a comprehensive review of 122 prior reports that included a total of 254 patients. Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia.
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http://dx.doi.org/10.1093/brain/awl056 | DOI Listing |
Psychopharmacology (Berl)
December 2024
Bowles Center for Alcohol Studies, Department of Psychiatry, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Rationale: The positive reinforcing effects of alcohol (ethanol) drive repetitive use and contribute to alcohol use disorder (AUD). Ethanol alters the expression of glutamate AMPA receptor (AMPAR) subunits in reward-related brain regions, but the extent to which this effect regulates ethanol's reinforcing properties is unclear.
Objective: This study investigates whether ethanol self-administration changes AMPAR subunit expression and synaptic activity in the nucleus accumbens core (AcbC) to regulate ethanol's reinforcing effects in male C57BL/6 J mice.
CNS Neurosci Ther
December 2024
Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.
Aims: To investigate the effect of alcohol consumption on the clinical symptoms in a cohort of Progressive supranuclear palsy (PSP) patients.
Methods: We conducted a cross-sectional study focusing on possible and probable PSP patients in Qilu Hospital of Shandong University. Diagnoses and clinical phenotypes were confirmed using the 2017 Movement Disorder Society criteria and the Multiple Allocations eXtinction (MAX) rules.
The PEX1/PEX6 AAA-ATPase is required for the biogenesis and maintenance of peroxisomes. Mutations in and disrupt peroxisomal matrix protein import and are the leading cause of Peroxisome Biogenesis Disorders (PBDs). The most common disease-causing mutation in PEX1 is the PEX1 allele, which results in a reduction of peroxisomal protein import.
View Article and Find Full Text PDFCureus
November 2024
Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.
Complex regional pain syndrome (CRPS) is a chronic debilitating multisystem neuropathic pain disorder. It is characterized by continuous pain, usually out of proportion to any known tissue injury, vasomotor changes, sudomotor or edema, and motor or trophic changes. The objective of this study is to assess the efficacy of neuromodulation, interventional, and unconventional treatments for CRPS.
View Article and Find Full Text PDFNeurol Genet
February 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.
Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.
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